NM_000690.3(ALDH2):c.1510G>A (p.Glu504Lys)

Variation ID: Help
18390
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000690.3(ALDH2):c.1510G>A (p.Glu504Lys)

Allele ID:
33429
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.1
Genomic location:
  • Chr12: 111803962 (on Assembly GRCh38)
  • Chr12: 112241766 (on Assembly GRCh37)
Other names:
  • ALDH2*2
  • ALDH2, GLU504LYS (rs671)
  • GLU487LYS
Protein change:
E504K
HGVS:
  • NG_012250.1:g.42421G>A
  • NM_000690.3:c.1510G>A
  • NC_000012.12:g.111803962G>A (GRCh38)
  • NP_000681.2:p.Glu504Lys
  • NC_000012.11:g.112241766G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs671
Molecular consequence:
NM_000690.3:c.1510G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
GMAF 0.03570 (A)

1 Affected gene

Variant frequency in dbGaP Help

NM_000690.3(ALDH2):c.1510G>A (p.Glu504Lys)

GRCh37 Chr12:112241766
Called variantsPotential variants
Sample count10 of 39369 of 40291

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.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Apr 4, 2013)
no assertion criteria providedliterature onlygermlineOMIMSCV000040356.1
protective
(Feb 1, 2010)
no assertion criteria providedliterature onlygermlineOMIMSCV000040357.1
risk factor
(Feb 1, 2010)
no assertion criteria providedliterature only
  • Susceptibility to hangover[MedGen]
germlineOMIMSCV000040358.1
risk factor
(Feb 1, 2010)
no assertion criteria providedliterature only
  • Sublingual nitroglycerin, susceptibility to poor response to[MedGen]
germlineOMIMSCV000040359.1
risk factor
(Feb 1, 2010)
no assertion criteria providedliterature only
  • ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO[MedGen]
germlineOMIMSCV000040360.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Feb 17, 2016