U.S. flag

An official website of the United States government

NC_000001.11:g.173859535_173926473del AND Hereditary antithrombin deficiency

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001779973.1

Allele description

NC_000001.11:g.173859535_173926473del

Genes:
  • LOC129931941:ATAC-STARR-seq lymphoblastoid active region 2118 [Gene]
  • LOC129931940:ATAC-STARR-seq lymphoblastoid silent region 1556 [Gene]
  • LOC126805922:BRD4-independent group 4 enhancer GRCh37_chr1:173837597-173838796 [Gene]
  • LOC126805923:BRD4-independent group 4 enhancer GRCh37_chr1:173863193-173864392 [Gene]
  • GAS5-AS1:GAS5 antisense RNA 1 [Gene - HGNC]
  • GAS5:growth arrest specific 5 [Gene - OMIM - HGNC]
  • SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
  • SNORD44:small nucleolar RNA, C/D box 44 [Gene - HGNC]
  • SNORD47:small nucleolar RNA, C/D box 47 [Gene - HGNC]
  • SNORD74:small nucleolar RNA, C/D box 74 [Gene - HGNC]
  • SNORD75:small nucleolar RNA, C/D box 75 [Gene - HGNC]
  • SNORD76:small nucleolar RNA, C/D box 76 [Gene - HGNC]
  • SNORD77:small nucleolar RNA, C/D box 77 [Gene - HGNC]
  • SNORD78:small nucleolar RNA, C/D box 78 [Gene - HGNC]
  • SNORD79:small nucleolar RNA, C/D box 79 [Gene - HGNC]
  • SNORD80:small nucleolar RNA, C/D box 80 [Gene - HGNC]
  • SNORD81:small nucleolar RNA, C/D box 81 [Gene - HGNC]
  • SNORA103:small nucleolar RNA, H/ACA box 103 [Gene - HGNC]
  • ZBTB37:zinc finger and BTB domain containing 37 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q25.1
Genomic location:
Chr1: 173859535 - 173926473 (on Assembly GRCh38)
Preferred name:
NC_000001.11:g.173859535_173926473del
HGVS:
NC_000001.11:g.173859535_173926473del

Condition(s)

Name:
Hereditary antithrombin deficiency
Synonyms:
Antithrombin III deficiency; Thrombophilia due to antithrombin III deficiency; Reduced antithrombin III activity; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013144; MedGen: C0272375; OMIM: 613118; Human Phenotype Ontology: HP:0001976

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002016211Servicio de Hematología y Oncología médica, Universidad de Murcia
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Servicio de Hematología y Oncología médica, Universidad de Murcia, SCV002016211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

AntiFXa 65%; Ag 51%

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023