U.S. flag

An official website of the United States government

NC_000001.11:g.173501975_175305010del 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:
RCV001779970.3

Allele description [Variation Report for NC_000001.11:g.173501975_175305010del]

NC_000001.11:g.173501975_175305010del

Genes:
  • LOC129931937:ATAC-STARR-seq lymphoblastoid active region 2114 [Gene]
  • LOC129931938:ATAC-STARR-seq lymphoblastoid active region 2115 [Gene]
  • LOC129931939:ATAC-STARR-seq lymphoblastoid active region 2116 [Gene]
  • LOC129931941:ATAC-STARR-seq lymphoblastoid active region 2118 [Gene]
  • LOC129931942:ATAC-STARR-seq lymphoblastoid active region 2119 [Gene]
  • LOC129931946:ATAC-STARR-seq lymphoblastoid active region 2120 [Gene]
  • LOC129931949:ATAC-STARR-seq lymphoblastoid active region 2121 [Gene]
  • LOC129931950:ATAC-STARR-seq lymphoblastoid active region 2122 [Gene]
  • LOC129931953:ATAC-STARR-seq lymphoblastoid active region 2123 [Gene]
  • LOC129931955:ATAC-STARR-seq lymphoblastoid active region 2124 [Gene]
  • LOC129931956:ATAC-STARR-seq lymphoblastoid active region 2125 [Gene]
  • LOC129931958:ATAC-STARR-seq lymphoblastoid active region 2128 [Gene]
  • LOC129931959:ATAC-STARR-seq lymphoblastoid active region 2129 [Gene]
  • LOC129931960:ATAC-STARR-seq lymphoblastoid active region 2130 [Gene]
  • LOC129931961:ATAC-STARR-seq lymphoblastoid active region 2131 [Gene]
  • LOC129931962:ATAC-STARR-seq lymphoblastoid active region 2132 [Gene]
  • LOC129931963:ATAC-STARR-seq lymphoblastoid active region 2133 [Gene]
  • LOC129931964:ATAC-STARR-seq lymphoblastoid active region 2134 [Gene]
  • LOC129931940:ATAC-STARR-seq lymphoblastoid silent region 1556 [Gene]
  • LOC129931943:ATAC-STARR-seq lymphoblastoid silent region 1558 [Gene]
  • LOC129931944:ATAC-STARR-seq lymphoblastoid silent region 1559 [Gene]
  • LOC129931945:ATAC-STARR-seq lymphoblastoid silent region 1560 [Gene]
  • LOC129931947:ATAC-STARR-seq lymphoblastoid silent region 1561 [Gene]
  • LOC129931948:ATAC-STARR-seq lymphoblastoid silent region 1562 [Gene]
  • LOC129931951:ATAC-STARR-seq lymphoblastoid silent region 1563 [Gene]
  • LOC129931952:ATAC-STARR-seq lymphoblastoid silent region 1564 [Gene]
  • LOC129931954:ATAC-STARR-seq lymphoblastoid silent region 1565 [Gene]
  • LOC129931957:ATAC-STARR-seq lymphoblastoid silent region 1566 [Gene]
  • LOC129931965:ATAC-STARR-seq lymphoblastoid silent region 1567 [Gene]
  • LOC126805920:BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 [Gene]
  • LOC126805921:BRD4-independent group 4 enhancer GRCh37_chr1:173610829-173612028 [Gene]
  • LOC126805922:BRD4-independent group 4 enhancer GRCh37_chr1:173837597-173838796 [Gene]
  • LOC126805923:BRD4-independent group 4 enhancer GRCh37_chr1:173863193-173864392 [Gene]
  • LOC126805927:BRD4-independent group 4 enhancer GRCh37_chr1:175036290-175037489 [Gene]
  • LOC115801455:CRISPRi-validated cis-regulatory element chr1.9913 [Gene]
  • GPR52:G protein-coupled receptor 52 [Gene - OMIM - HGNC]
  • GAS5-AS1:GAS5 antisense RNA 1 [Gene - HGNC]
  • KIAA0040:KIAA0040 [Gene - OMIM - HGNC]
  • LOC126805924:MED14-independent group 3 enhancer GRCh37_chr1:173915901-173917100 [Gene]
  • LOC126805925:MED14-independent group 3 enhancer GRCh37_chr1:174817888-174819087 [Gene]
  • LOC126805928:MED14-independent group 3 enhancer GRCh37_chr1:175238074-175239273 [Gene]
  • LOC129388635:MPRA-validated peak463 silencer [Gene]
  • LOC129388636:MPRA-validated peak465 silencer [Gene]
  • LOC129388637:MPRA-validated peak466 silencer [Gene]
  • LOC129388638:MPRA-validated peak467 silencer [Gene]
  • LOC129388639:MPRA-validated peak469 silencer [Gene]
  • LOC129388640:MPRA-validated peak471 silencer [Gene]
  • LOC126805926:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:175023596-175024795 [Gene]
  • RABGAP1L:RAB GTPase activating protein 1 like [Gene - OMIM - HGNC]
  • RABGAP1L-AS1:RABGAP1L antisense RNA 1 [Gene - HGNC]
  • RABGAP1L-DT:RABGAP1L divergent transcript [Gene - HGNC]
  • RC3H1-DT:RC3H1 divergent transcript [Gene - HGNC]
  • LOC112577515:Sharpr-MPRA regulatory region 10542 [Gene]
  • LOC122149310:Sharpr-MPRA regulatory region 15603 [Gene]
  • LOC122149311:Sharpr-MPRA regulatory region 6447 [Gene]
  • LOC122149309:Sharpr-MPRA regulatory region 797 [Gene]
  • ANKRD45:ankyrin repeat domain 45 [Gene - OMIM - HGNC]
  • DARS2:aspartyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • CACYBP:calcyclin binding protein [Gene - OMIM - HGNC]
  • CENPL:centromere protein L [Gene - OMIM - HGNC]
  • GAS5:growth arrest specific 5 [Gene - OMIM - HGNC]
  • KLHL20:kelch like family member 20 [Gene - OMIM - HGNC]
  • MRPS14:mitochondrial ribosomal protein S14 [Gene - OMIM - HGNC]
  • RC3H1:ring finger and CCCH-type domains 1 [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]
  • SLC9C2:solute carrier family 9 member C2 (putative) [Gene - OMIM - HGNC]
  • TNN:tenascin N [Gene - OMIM - HGNC]
  • TEX50:testis expressed 50 [Gene - HGNC]
  • LOC105371622:uncharacterized LOC105371622 [Gene]
  • ZBTB37:zinc finger and BTB domain containing 37 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q25.1
Genomic location:
Chr1: 173501975 - 175305010 (on Assembly GRCh38)
Preferred name:
NC_000001.11:g.173501975_175305010del
HGVS:
NC_000001.11:g.173501975_175305010del

Condition(s)

Name:
Hereditary antithrombin deficiency (AT3D)
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
SCV002016208Servicio 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, SCV002016208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

AntiFXa 33%; Ag 45%

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

Last Updated: Apr 7, 2025