NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp)

Variation ID: Help
18042
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 1, 1994
Number of submission(s):
1
Condition(s):
Antithrombin III deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp)

Allele ID:
33081
Variant type:
single nucleotide variant
Cytogenetic location:
1q25
Genomic location:
  • Chr1: 173910861 (on Assembly GRCh38)
  • Chr1: 173879999 (on Assembly GRCh37)
Protein change:
N187D, N219D
HGVS:
  • NG_012462.1:g.11518A>G
  • NM_000488.3:c.655A>G
  • NC_000001.11:g.173910861T>C (GRCh38)
  • NP_000479.1:p.Asn219Asp
  • LRG_577t1:c.655A>G
  • NC_000001.10:g.173879999T>C (GRCh37)
  • LRG_577p1:p.Asn219Asp
  • LRG_577:g.11518A>G
Links:
NCBI 1000 Genomes Browser:
rs121909571
Molecular consequence:
NM_000488.3:c.655A>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp)

GRCh37 Chr1:173879999
Called variantsPotential variants
Sample countno data1 of 40896

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Dec 1, 1994)
no assertion criteria providedliterature onlygermlineOMIM

(Dec 30, 2010)

SCV000039956.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedAntithrombin III deficiency (not provided)not providednot providedBruce et al. (1994) described thromboembolic disease due to thermolabile conformational changes of AT-III Rouen VI (613118), which carries an asn187-t…Full description

Last Updated: Dec 8, 2015