The c.235C>T (NM_000488.4) variant in SERPINC1 is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 79 (p.Arg79Cys). This variant has been reported in at least 31 probands meeting an antithrombin activity level of <0.8 IU/mL and several more are reported in the literature (PS4_Very Strong; PMID:28300866). The variant has been reported to segregate with autosomal dominant hereditary antithrombin deficiency in 18 affected family meioses from 32 families (PP1_Strong; 28300866). One of 50 individuals within 45 families who had a mean AT activity of 53% and AT antigen level of 106%, which is highly specific for hereditary antithrombin deficiencies. The curators confirmed with lead author that most individuals AT levels were confirmed with at least two samples since this is not specified in the publication. The ClinGen Thrombosis VCEP members have agreed that all probands in this paper can be counted at full strength for PP4 (PP4_Supporting; PMID:28300866). The computational predictor REVEL gives a score of 0.743, which is above the threshold of 0.6, evidence that correlates with impact to SERPINC1 function (PP3). This variant resides within a region, Arg79, of SERPINC1 that would impact heparin binding site residues and is defined as a critical functional domain by the ClinGen Thrombosis VCEP (PMID:2615648; PM1). Another missense variant c.236G>A (p.Arg79His) (ClinVarID:18014) in the same codon has been classified as pathogenic for autosomal dominant hereditary antithrombin deficiency by the ClinGen Thrombosis VCEP (PM5). In summary, this variant meets the criteria to be classified as pathogenic for autosomal dominant hereditary antithrombin deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Thrombosis VCEP: PP1, PS4_Very strong, PM1, PM5, PP3, PP4. (ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0; date of approval)
ClinVar Genomic variation as it relates to human health
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
Variation ID: 18004 Accession: VCV000018004.13
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 1q25.1 1: 173914726 (GRCh38) [ NCBI UCSC ] 1: 173883864 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 9, 2015 Nov 24, 2024 Feb 19, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000488.4:c.235C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000479.1:p.Arg79Cys missense NM_001365052.2:c.91C>T NP_001351981.1:p.Arg31Cys missense NM_001386302.1:c.235C>T NP_001373231.1:p.Arg79Cys missense NM_001386303.1:c.316C>T NP_001373232.1:p.Arg106Cys missense NM_001386304.1:c.235C>T NP_001373233.1:p.Arg79Cys missense NM_001386305.1:c.235C>T NP_001373234.1:p.Arg79Cys missense NM_001386306.1:c.235C>T NP_001373235.1:p.Arg79Cys missense NC_000001.11:g.173914726G>A NC_000001.10:g.173883864G>A NG_012462.1:g.7653C>T LRG_577:g.7653C>T LRG_577t1:c.235C>T LRG_577p1:p.Arg79Cys P01008:p.Arg79Cys - Protein change
- R79C, R31C, R106C
- Other names
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R47C
NM_000488.4(SERPINC1):c.235C>T
- Canonical SPDI
- NC_000001.11:173914725:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00008
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| SERPINC1 | - | - |
GRCh38 GRCh37 |
375 | 434 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (6) |
reviewed by expert panel
|
Feb 19, 2024 | RCV000019620.35 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jul 31, 2024 | RCV004791230.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Pathogenic
(Feb 19, 2024)
|
reviewed by expert panel
Method: curation
|
Hereditary antithrombin deficiency
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Clingen Thrombosis Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV005061615.1 First in ClinVar: Jun 23, 2024 Last updated: Jun 23, 2024 |
Comment:
The c.235C>T (NM_000488.4) variant in SERPINC1 is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 79 (p.Arg79Cys). This variant … (more)
The c.235C>T (NM_000488.4) variant in SERPINC1 is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 79 (p.Arg79Cys). This variant has been reported in at least 31 probands meeting an antithrombin activity level of <0.8 IU/mL and several more are reported in the literature (PS4_Very Strong; PMID:28300866). The variant has been reported to segregate with autosomal dominant hereditary antithrombin deficiency in 18 affected family meioses from 32 families (PP1_Strong; 28300866). One of 50 individuals within 45 families who had a mean AT activity of 53% and AT antigen level of 106%, which is highly specific for hereditary antithrombin deficiencies. The curators confirmed with lead author that most individuals AT levels were confirmed with at least two samples since this is not specified in the publication. The ClinGen Thrombosis VCEP members have agreed that all probands in this paper can be counted at full strength for PP4 (PP4_Supporting; PMID:28300866). The computational predictor REVEL gives a score of 0.743, which is above the threshold of 0.6, evidence that correlates with impact to SERPINC1 function (PP3). This variant resides within a region, Arg79, of SERPINC1 that would impact heparin binding site residues and is defined as a critical functional domain by the ClinGen Thrombosis VCEP (PMID:2615648; PM1). Another missense variant c.236G>A (p.Arg79His) (ClinVarID:18014) in the same codon has been classified as pathogenic for autosomal dominant hereditary antithrombin deficiency by the ClinGen Thrombosis VCEP (PM5). In summary, this variant meets the criteria to be classified as pathogenic for autosomal dominant hereditary antithrombin deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Thrombosis VCEP: PP1, PS4_Very strong, PM1, PM5, PP3, PP4. (ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0; date of approval) (less)
|
|
|
Likely pathogenic
(Feb 01, 2019)
|
criteria provided, single submitter
Method: research
|
Hereditary antithrombin deficiency
Affected status: yes
Allele origin:
unknown
|
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899613.1 First in ClinVar: Sep 29, 2019 Last updated: Sep 29, 2019 |
Sex: female
Ethnicity/Population group: European
|
|
|
Likely pathogenic
(Jan 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary antithrombin deficiency
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002059060.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000018004, PMID:6582486, PS1_S). A … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000018004, PMID:6582486, PS1_S). A different missense change at the same codon has been reported to be associated with SERPINC1 related disorder (ClinVar ID: VCV000018015, PMID:2615648,3350974, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.743, PP3_P). A missense variant is a common mechanism associated with Thrombophilia due to antithrombin III deficiency (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000048, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Stroke disorder (present)
|
|
|
Likely pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary antithrombin deficiency
Affected status: yes
Allele origin:
germline
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
Accession: SCV002499590.2
First in ClinVar: Apr 23, 2022 Last updated: Sep 17, 2022
Comment:
Submitted to GoldVariant by Kathleen Freson, Center for Molecular and Vascular Biology, Leuven, Belgium
|
Clinical Features:
Reduced antithrombin levels (present)
|
|
|
Pathogenic
(Oct 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary antithrombin deficiency
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001391190.4
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 79 of the SERPINC1 protein … (more)
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 79 of the SERPINC1 protein (p.Arg79Cys). This variant is present in population databases (rs121909547, gnomAD 0.02%). This missense change has been observed in individuals with antithrombin III deficiency (PMID: 3960724, 6582486, 21325262, 24162787, 25837307, 28300866). It has also been observed to segregate with disease in related individuals. This variant is also known as R47C, Arg47Cys, Antithrombin III Toyama, Antithrombin III Alger, and Antithrombin III tours. ClinVar contains an entry for this variant (Variation ID: 18004). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SERPINC1 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects SERPINC1 function (PMID: 22498748, 27322195). This variant disrupts the p.Arg79 amino acid residue in SERPINC1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2615648, 3567355, 7981186, 21264449, 25837307, 26748602, 28607330, 29153735). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Jul 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV005414061.1
First in ClinVar: Nov 24, 2024 Last updated: Nov 24, 2024 |
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Jan 01, 1996)
|
no assertion criteria provided
Method: literature only
|
THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039918.2
First in ClinVar: Apr 04, 2013 Last updated: Feb 09, 2015 |
Comment on evidence:
AT-III Toyama was described by Sakuragawa et al. (1983). In a patient with recurrent thrombophlebitis and deficiency of AT-III (613118), Koide et al. (1984) identified … (more)
AT-III Toyama was described by Sakuragawa et al. (1983). In a patient with recurrent thrombophlebitis and deficiency of AT-III (613118), Koide et al. (1984) identified homozygosity for AT-III Toyama, an arg47-to-cys substitution. Members of the family who were heterozygous for the mutation were asymptomatic. This mutation has also been described as AT-III Paris (Wolf et al., 1982), AT-III Padua-2 (Girolami et al., 1983), AT-III Tours (Duchange et al., 1986), AT-III Barcelona-2 (Fontcuberta et al., 1988), AT-III Alger (Fischer et al., 1986), AT-III Amiens, and AT-III Paris-2. Chasse et al. (1984) identified the abnormality in heterozygous state in 9 members of a French family, all without thrombotic complications. Duchange et al. (1986) confirmed that the mutation (AT-III Tours) in this family was a C-to-T transition leading to an arg47-to-cys substitution. The deficiency in AT-III Tours shows retention of normal activity in the absence of heparin and diminished activity in the presence of heparin, with a decrease or complete loss of heparin-binding ability. Most type 3 deficiencies are silent in the heterozygous state and associated with severe thrombotic disorders only in homozygotes (Boyer et al., 1986; Sakuragawa et al., 1983; Duchange et al., 1987). This variant, described in homozygous form by Fischer et al. (1986), was shown by Brunel et al. (1987) also to have substitution of cysteine for arginine-47. The same mutation was identified by Perry and Carrell (1989). (less)
|
Comment:
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000018004, PMID:6582486, PS1_S). A different missense change at the same codon has been reported to be associated with SERPINC1 related disorder (ClinVar ID: VCV000018015, PMID:2615648,3350974, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.743, PP3_P). A missense variant is a common mechanism associated with Thrombophilia due to antithrombin III deficiency (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000048, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 79 of the SERPINC1 protein (p.Arg79Cys). This variant is present in population databases (rs121909547, gnomAD 0.02%). This missense change has been observed in individuals with antithrombin III deficiency (PMID: 3960724, 6582486, 21325262, 24162787, 25837307, 28300866). It has also been observed to segregate with disease in related individuals. This variant is also known as R47C, Arg47Cys, Antithrombin III Toyama, Antithrombin III Alger, and Antithrombin III tours. ClinVar contains an entry for this variant (Variation ID: 18004). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SERPINC1 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects SERPINC1 function (PMID: 22498748, 27322195). This variant disrupts the p.Arg79 amino acid residue in SERPINC1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2615648, 3567355, 7981186, 21264449, 25837307, 26748602, 28607330, 29153735). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.235C>T (NM_000488.4) variant in SERPINC1 is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 79 (p.Arg79Cys). This variant has been reported in at least 31 probands meeting an antithrombin activity level of <0.8 IU/mL and several more are reported in the literature (PS4_Very Strong; PMID:28300866). The variant has been reported to segregate with autosomal dominant hereditary antithrombin deficiency in 18 affected family meioses from 32 families (PP1_Strong; 28300866). One of 50 individuals within 45 families who had a mean AT activity of 53% and AT antigen level of 106%, which is highly specific for hereditary antithrombin deficiencies. The curators confirmed with lead author that most individuals AT levels were confirmed with at least two samples since this is not specified in the publication. The ClinGen Thrombosis VCEP members have agreed that all probands in this paper can be counted at full strength for PP4 (PP4_Supporting; PMID:28300866). The computational predictor REVEL gives a score of 0.743, which is above the threshold of 0.6, evidence that correlates with impact to SERPINC1 function (PP3). This variant resides within a region, Arg79, of SERPINC1 that would impact heparin binding site residues and is defined as a critical functional domain by the ClinGen Thrombosis VCEP (PMID:2615648; PM1). Another missense variant c.236G>A (p.Arg79His) (ClinVarID:18014) in the same codon has been classified as pathogenic for autosomal dominant hereditary antithrombin deficiency by the ClinGen Thrombosis VCEP (PM5). In summary, this variant meets the criteria to be classified as pathogenic for autosomal dominant hereditary antithrombin deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Thrombosis VCEP: PP1, PS4_Very strong, PM1, PM5, PP3, PP4. (ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0; date of approval)
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000018004, PMID:6582486, PS1_S). A different missense change at the same codon has been reported to be associated with SERPINC1 related disorder (ClinVar ID: VCV000018015, PMID:2615648,3350974, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.743, PP3_P). A missense variant is a common mechanism associated with Thrombophilia due to antithrombin III deficiency (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000048, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 79 of the SERPINC1 protein (p.Arg79Cys). This variant is present in population databases (rs121909547, gnomAD 0.02%). This missense change has been observed in individuals with antithrombin III deficiency (PMID: 3960724, 6582486, 21325262, 24162787, 25837307, 28300866). It has also been observed to segregate with disease in related individuals. This variant is also known as R47C, Arg47Cys, Antithrombin III Toyama, Antithrombin III Alger, and Antithrombin III tours. ClinVar contains an entry for this variant (Variation ID: 18004). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SERPINC1 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects SERPINC1 function (PMID: 22498748, 27322195). This variant disrupts the p.Arg79 amino acid residue in SERPINC1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2615648, 3567355, 7981186, 21264449, 25837307, 26748602, 28607330, 29153735). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution. | Marco-Rico A | Journal of blood medicine | 2023 | PMID: 37674759 |
| Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype. | Natorska J | Thrombosis and haemostasis | 2023 | PMID: 37201530 |
| Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency. | Kim S | Frontiers in neurology | 2022 | PMID: 35720094 |
| Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis. | Preisler B | Journal of clinical medicine | 2021 | PMID: 33477601 |
| Congenital antithrombin deficiency in patients with splanchnic vein thrombosis. | Baiges A | Liver international : official journal of the International Association for the Study of the Liver | 2020 | PMID: 31885188 |
| Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Downes K | Blood | 2019 | PMID: 31064749 |
| Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center. | Gindele R | Thrombosis research | 2017 | PMID: 29153735 |
| Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients. | Wypasek E | Polish archives of internal medicine | 2017 | PMID: 28607330 |
| Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. | Alhenc-Gelas M | Thrombosis and haemostasis | 2017 | PMID: 28300866 |
| High prevalence of congenital thrombophilia in patients with pregnancy-related or idiopathic venous thromboembolism/pulmonary embolism. | Ikejiri M | International journal of hematology | 2017 | PMID: 27766527 |
| Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site. | Bohdan N | PloS one | 2016 | PMID: 27322195 |
| Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort. | Gindele R | Journal of thrombosis and haemostasis : JTH | 2016 | PMID: 26748602 |
| High frequency of decreased antithrombin level in pregnant women with thrombosis. | Kamimoto Y | International journal of hematology | 2015 | PMID: 26134363 |
| Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia. | Orlando C | Thrombosis research | 2015 | PMID: 25837307 |
| Antithrombin III deficiency in Indian patients with deep vein thrombosis: identification of first India based AT variants including a novel point mutation (T280A) that leads to aggregation. | Bhakuni T | PloS one | 2015 | PMID: 25811371 |
| Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. | Kim HJ | Haematologica | 2014 | PMID: 24162787 |
| Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism. | Martínez-Martínez I | Blood | 2012 | PMID: 22498748 |
| Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy. | Castaldo G | Thrombosis and haemostasis | 2012 | PMID: 22398878 |
| A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. | Yoo JH | Annals of clinical and laboratory science | 2011 | PMID: 21325262 |
| Molecular basis of antithrombin deficiency. | Luxembourg B | Thrombosis and haemostasis | 2011 | PMID: 21264449 |
| Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. | Dewerchin M | Circulation research | 2003 | PMID: 14592998 |
| Recurrent leg ulcers and arterial thrombosis in a 33-year-old homozygous variant of antithrombin. | Shimizu K | American journal of hematology | 2001 | PMID: 11279641 |
| Molecular genetics of human antithrombin deficiency. | Perry DJ | Human mutation | 1996 | PMID: 8664906 |
| Three novel mutations of antithrombin inducing high-molecular-mass compounds. | Emmerich J | Arteriosclerosis and thrombosis : a journal of vascular biology | 1994 | PMID: 7981186 |
| CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction. | Perry DJ | Molecular biology & medicine | 1989 | PMID: 2615648 |
| Quantitative and qualitative congenital deficiency of antithrombin III: a new molecular variant called ATIII-Barcelona 2. | Fontcuberta J | Thrombosis research | 1988 | PMID: 3413737 |
| Antithrombin III Alger: a new case of Arg 47----Cys mutation. | Brunel F | American journal of hematology | 1987 | PMID: 3605071 |
| Heparin binding defect in a new antithrombin III variant: Rouen, 47 Arg to His. | Owen MC | Blood | 1987 | PMID: 3567355 |
| Molecular characterization of the antithrombin III tours deficiency. | Duchange N | Thrombosis research | 1987 | PMID: 3563974 |
| Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency. | Duchange N | Nucleic acids research | 1986 | PMID: 3960724 |
| Homozygous variant of antithrombin III: AT III Fontainebleau. | Boyer C | Thrombosis and haemostasis | 1986 | PMID: 3775688 |
| Antithrombin III Alger: a new homozygous AT III variant. | Fischer AM | Thrombosis and haemostasis | 1986 | PMID: 3715788 |
| Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. | Koide T | Proceedings of the National Academy of Sciences of the United States of America | 1984 | PMID: 6582486 |
| An abnormal plasma antithrombin with no apparent affinity for heparin. | Chasse JF | Thrombosis research | 1984 | PMID: 6204398 |
| Antithrombin III (AT III) Padua2: a "new" congenital abnormality with defective heparin co-factor activities but no thrombotic disease. | Girolami A | Blut | 1983 | PMID: 6871478 |
| Antithrombin III Toyama: a hereditary abnormal antithrombin III of a patient with recurrent thrombophlebitis. | Sakuragawa N | Thrombosis research | 1983 | PMID: 6636045 |
| A new familial variant of antithrombin III: 'antithrombin III Paris'. | Wolf M | British journal of haematology | 1982 | PMID: 7082587 |
| https://erepo.clinicalgenome.org/evrepo/ui/interpretation/1a0f0b66-2f20-4764-92d2-7612eccb97c1 | - | - | - | - |
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Text-mined citations for rs121909547 ...
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Record last updated Nov 25, 2024
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