In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Hb G-Coushatta; This variant is associated with the following publications: (PMID: 23001606, 9048934, 34426522, 6033745, 29717566, 31553106, 19429541, 25572187, 6021187, 3115700, 18619001, 23806067, 5658717, 30568544, 34766575, 5791015, 31300739, 37188672, 14081243, 721611, 2703366, 28865746, 10081986)
ClinVar Genomic variation as it relates to human health
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(10)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1); Likely benign(3)
Uncertain significance(1); Benign(1); Likely benign(3)
10
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
Variation ID: 15171 Accession: VCV000015171.25
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11p15.4 11: 5226954 (GRCh38) [ NCBI UCSC ] 11: 5248184 (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 Apr 4, 2013 Jul 23, 2024 Dec 11, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000518.5:c.68A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000509.1:p.Glu23Ala missense NC_000011.10:g.5226954T>G NC_000011.9:g.5248184T>G NG_000007.3:g.70662A>C NG_042296.1:g.485T>G NG_046672.1:g.4889T>G NG_059281.1:g.5118A>C LRG_1232:g.5118A>C LRG_1232t1:c.68A>C LRG_1232p1:p.Glu23Ala P68871:p.Glu23Ala - Protein change
- E23A
- Other names
-
E22A
- Canonical SPDI
- NC_000011.10:5226953:T:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
-
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
- 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. |
|||
| HBB | - | - |
GRCh38 GRCh37 |
22 | 1835 | |
| LOC106099062 | - | - | - | GRCh38 | - | 863 |
| LOC107133510 | - | - | - | GRCh38 | - | 1785 |
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. |
|---|---|---|---|---|
|
HEMOGLOBIN G (TAEGU)
|
other (1) |
no assertion criteria provided
|
Dec 12, 2017 | RCV000016346.13 |
|
HEMOGLOBIN G (COUSHATTA)
|
other (1) |
no assertion criteria provided
|
Dec 12, 2017 | RCV000016343.13 |
|
HEMOGLOBIN G (HSIN-CHU)
|
other (1) |
no assertion criteria provided
|
Dec 12, 2017 | RCV000016345.13 |
| Benign (1) |
criteria provided, single submitter
|
May 28, 2019 | RCV000030001.18 | |
|
HEMOGLOBIN G (SASKATOON)
|
other (1) |
no assertion criteria provided
|
Dec 12, 2017 | RCV000016344.13 |
| Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
Dec 11, 2023 | RCV000224041.27 | |
| Likely benign (1) |
criteria provided, single submitter
|
Mar 10, 2023 | RCV003226160.8 |
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. |
|
|---|---|---|---|---|---|
|
Likely benign
(Aug 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885559.7
First in ClinVar: Apr 21, 2017 Last updated: Feb 20, 2024 |
|
|
|
Uncertain significance
(Dec 11, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV005078086.1
First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Hb G-Coushatta; This variant is associated with … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Hb G-Coushatta; This variant is associated with the following publications: (PMID: 23001606, 9048934, 34426522, 6033745, 29717566, 31553106, 19429541, 25572187, 6021187, 3115700, 18619001, 23806067, 5658717, 30568544, 34766575, 5791015, 31300739, 37188672, 14081243, 721611, 2703366, 28865746, 10081986) (less)
|
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Beta-thalassemia HBB/LCRB
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001138221.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Likely benign
(Mar 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697143.2
First in ClinVar: Apr 21, 2017 Last updated: May 13, 2023 |
Comment:
Variant summary: HBB c.68A>C (p.Glu23Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: HBB c.68A>C (p.Glu23Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-05 in 676170 control chromosomes (gnomAD and publications). This frequency is not significantly higher than estimated for a pathogenic variant in HBB causing Hemoglobinopathy (8.4e-05 vs 0.011), allowing no conclusion about variant significance. c.68A>C has been reported in the literature in healthy Native American, East Asian, Turkish, Egyptian, and Sri Lankan individuals in the heterozygous or homozygous state, suggesting that the variant is benign (e.g. Schneider_1964, Ohba_1978, Cao_1987, Li_1990, Hergersberg_2008, HbVar database). It has also been found to co-occur in cis and in trans with pathogenic beta-thalassemia variants (e.g. c.93-21G>A, IVS-1-1, G>A, and IVS-I-5) in patients, however in these cases it was believed to have little to no clinical impact (e.g. Hergersberg_2008, Koseler_2013, Perera_2015) . These data indicate that the variant is unlikely to be associated with disease. Additionally, a functional study has shown the variant to have normal oxygen equilibrium characteristics, and heat denaturation and isopropanol tests on hemolysates did not reveal instability of the hemoglobin, suggesting that the variant has a neutral effect on protein function (Ohba_1978). Six submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign (n=1)/likely benign (n=2), VUS (n=1), pathogenic (n=1) or other (n=1). Based on the evidence outlined above, the variant was classified as likely benign. (less)
|
|
|
Likely benign
(Nov 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001134236.4
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
|
|
|
other
(Dec 12, 2017)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN G (COUSHATTA)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036611.5
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), … (more)
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), Ohba et al. (1978), Niazi et al. (1981), and Dincol et al. (1989). (less)
|
|
|
other
(Dec 12, 2017)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN G (TAEGU)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036614.5
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), … (more)
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), Ohba et al. (1978), Niazi et al. (1981), and Dincol et al. (1989). (less)
|
|
|
other
(Dec 12, 2017)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN G (SASKATOON)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036612.5
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), … (more)
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), Ohba et al. (1978), Niazi et al. (1981), and Dincol et al. (1989). (less)
|
|
|
other
(Dec 12, 2017)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN G (HSIN-CHU)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036613.5
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), … (more)
See Schneider et al. (1964), Bowman et al. (1967), Vella et al. (1967), Blackwell et al. (1967), Blackwell et al. (1968), Blackwell et al. (1969), Ohba et al. (1978), Niazi et al. (1981), and Dincol et al. (1989). (less)
|
|
|
Pathogenic
(May 19, 2016)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: Outlier claim with insufficient supporting evidence
Source: ClinGen
|
not provided
Affected status: not provided
Allele origin:
de novo
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000281487.1
First in ClinVar: Apr 21, 2017 Last updated: Apr 21, 2017 |
|
|
| Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more | |||||
Comment:
Comment:
Variant summary: HBB c.68A>C (p.Glu23Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-05 in 676170 control chromosomes (gnomAD and publications). This frequency is not significantly higher than estimated for a pathogenic variant in HBB causing Hemoglobinopathy (8.4e-05 vs 0.011), allowing no conclusion about variant significance. c.68A>C has been reported in the literature in healthy Native American, East Asian, Turkish, Egyptian, and Sri Lankan individuals in the heterozygous or homozygous state, suggesting that the variant is benign (e.g. Schneider_1964, Ohba_1978, Cao_1987, Li_1990, Hergersberg_2008, HbVar database). It has also been found to co-occur in cis and in trans with pathogenic beta-thalassemia variants (e.g. c.93-21G>A, IVS-1-1, G>A, and IVS-I-5) in patients, however in these cases it was believed to have little to no clinical impact (e.g. Hergersberg_2008, Koseler_2013, Perera_2015) . These data indicate that the variant is unlikely to be associated with disease. Additionally, a functional study has shown the variant to have normal oxygen equilibrium characteristics, and heat denaturation and isopropanol tests on hemolysates did not reveal instability of the hemoglobin, suggesting that the variant has a neutral effect on protein function (Ohba_1978). Six submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign (n=1)/likely benign (n=2), VUS (n=1), pathogenic (n=1) or other (n=1). Based on the evidence outlined above, the variant was classified as likely benign.
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:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Hb G-Coushatta; This variant is associated with the following publications: (PMID: 23001606, 9048934, 34426522, 6033745, 29717566, 31553106, 19429541, 25572187, 6021187, 3115700, 18619001, 23806067, 5658717, 30568544, 34766575, 5791015, 31300739, 37188672, 14081243, 721611, 2703366, 28865746, 10081986)
Comment:
Variant summary: HBB c.68A>C (p.Glu23Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-05 in 676170 control chromosomes (gnomAD and publications). This frequency is not significantly higher than estimated for a pathogenic variant in HBB causing Hemoglobinopathy (8.4e-05 vs 0.011), allowing no conclusion about variant significance. c.68A>C has been reported in the literature in healthy Native American, East Asian, Turkish, Egyptian, and Sri Lankan individuals in the heterozygous or homozygous state, suggesting that the variant is benign (e.g. Schneider_1964, Ohba_1978, Cao_1987, Li_1990, Hergersberg_2008, HbVar database). It has also been found to co-occur in cis and in trans with pathogenic beta-thalassemia variants (e.g. c.93-21G>A, IVS-1-1, G>A, and IVS-I-5) in patients, however in these cases it was believed to have little to no clinical impact (e.g. Hergersberg_2008, Koseler_2013, Perera_2015) . These data indicate that the variant is unlikely to be associated with disease. Additionally, a functional study has shown the variant to have normal oxygen equilibrium characteristics, and heat denaturation and isopropanol tests on hemolysates did not reveal instability of the hemoglobin, suggesting that the variant has a neutral effect on protein function (Ohba_1978). Six submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign (n=1)/likely benign (n=2), VUS (n=1), pathogenic (n=1) or other (n=1). Based on the evidence outlined above, the variant was classified as likely benign.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
| Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. | Scheps KG | Human mutation | 2020 | PMID: 31553106 |
| Estimating the age of Hb G-Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β-globin gene cluster in Denizli, Turkey. | Ozturk O | Molecular genetics & genomic medicine | 2018 | PMID: 29717566 |
| Five Rare β Globin Chain Hemoglobin Variants in India. | Colah RB | Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion | 2016 | PMID: 27408413 |
| Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. | Canatan D | Hemoglobin | 2016 | PMID: 27207683 |
| Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. | Zhang J | PloS one | 2015 | PMID: 25849334 |
| A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys). | Wang MC | Hemoglobin | 2015 | PMID: 25669128 |
| Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan families. | Perera PS | Hemoglobin | 2015 | PMID: 25572187 |
| Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China. | Lin M | Hemoglobin | 2013 | PMID: 23806067 |
| Molecular studies on the origin of the Hb G-Coushatta mutation in Denizli province of Turkey. | Köseler A | Biochemical genetics | 2013 | PMID: 23001606 |
| Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. | George Priya Doss C | New biotechnology | 2009 | PMID: 19429541 |
| Homozygosity of Hb G-Coushatta combined with heterozygous IVS-I-110(G>A) in an adult patient. | Hergersberg M | Genetic counseling (Geneva, Switzerland) | 2008 | PMID: 18619001 |
| Rare hemoglobin variant Hb Yaizu observed in Turkey. | Atalay EO | Medical principles and practice : international journal of the Kuwait University, Health Science Centre | 2008 | PMID: 18523401 |
| Design and application of noncontinuously binding probes used for haplotyping and genotyping. | Pont-Kingdon G | Clinical chemistry | 2008 | PMID: 18403562 |
| HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. | Hardison RC | Human mutation | 2002 | PMID: 11857738 |
| Two Rare Hemoglobin Variants in the Turkish Population (Hb G-Coushatta (B 22(B4) GLU-ALA and Hb J Iran (B 77 (EF1) HIS-ASP). | Yenice Ş | Turkish journal of haematology : official journal of Turkish Society of Haematology | 2000 | PMID: 27265760 |
| Genetic studies suggest a multicentric origin for Hb G-Coushatta [beta22(B4)Glu-->Ala]. | Li J | Hemoglobin | 1999 | PMID: 10081986 |
| Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population. | el-Hashemite N | Human genetics | 1997 | PMID: 9048934 |
| Abnormal hemoglobins in the Silk Road region of China. | Li HJ | Human genetics | 1990 | PMID: 2265836 |
| Hb G-Coushatta or alpha 2 beta 222(B4)Glu----Ala in a Turkish male. | Dinçol G | Hemoglobin | 1989 | PMID: 2703366 |
| Homozygous HbG Coushatta with beta+ thalassemia. Report of two cases. | Cao ZH | Chinese medical journal | 1987 | PMID: 3115700 |
| Percentages of abnormal hemoglobins in adults with a heterozygosity for an alpha-chain and/or a beta-chain variant. | Huisman TH | American journal of hematology | 1983 | PMID: 6859036 |
| Hemoglobin G Saskatoon in association with PNH in an Iranian soldier. | Niazi GA | Hemoglobin | 1981 | PMID: 7204096 |
| Occurrence of hemoglobin G Coushatta in Japan. | Ohba Y | Hemoglobin | 1978 | PMID: 721611 |
| Hemoglobin Baylor (alpha2beta281(EF5) leu replaced by Arg)--an unstable mutant with high oxygen affinity. | Schneider RG | Hemoglobin | 1976 | PMID: 1052173 |
| Hemoglobin Ta-Li: 83 Gly leads to Cys. | Blackwell RQ | Biochimica et biophysica acta | 1971 | PMID: 5129589 |
| Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala. | Blackwell RQ | American journal of physical anthropology | 1969 | PMID: 5791015 |
| Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. | Blackwell RW | Science (New York, N.Y.) | 1968 | PMID: 5658717 |
| Hemoglobin variants in Koreans: hemoglobin G Taegu. | Blackwell RQ | Science (New York, N.Y.) | 1967 | PMID: 6054484 |
| Hemoglobin G-Coushatta: a beta variant with a delta-like substitution. | Bowman BH | Biochemical and biophysical research communications | 1967 | PMID: 6033745 |
| Hemoglobin G Saskatoon: beta-22Glu--Ala. | Vella F | Canadian journal of biochemistry | 1967 | PMID: 6021187 |
| HEMOGLOBIN G-COUSHATTA: A NEW VARIANT IN AN AMERICAN INDIAN FAMILY. | SCHNEIDER RG | Science (New York, N.Y.) | 1964 | PMID: 14081243 |
| click to load more click to collapse | ||||
Text-mined citations for rs33936254 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.