NM_001320198.1(KRT86):c.1237G>A (p.Glu413Lys)

Variation ID: Help
7609
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001320198.1(KRT86):c.1237G>A (p.Glu413Lys)

Allele ID:
22648
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.1
Genomic location:
  • Chr12: 52306270 (on Assembly GRCh38)
  • Chr12: 52700054 (on Assembly GRCh37)
Protein change:
E413K
HGVS:
  • NG_008086.2:g.36626G>A
  • NM_001320198.1:c.1237G>A
  • NP_001307127.1:p.Glu413Lys
  • NC_000012.12:g.52306270G>A (GRCh38)
  • NC_000012.11:g.52700054G>A (GRCh37)
  • NG_008086.1:g.9406G>A
  • O43790:p.Glu413Lys
Links:
NCBI 1000 Genomes Browser:
rs121909129
Molecular consequence:
NM_001320198.1:c.1237G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_001320198.1(KRT86):c.1237G>A (p.Glu413Lys)

GRCh37 Chr12:52700054
Called variantsPotential variants
Sample countno data0 of 40798

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 nameSubmission accession
Pathogenic
(Jan 1, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000028253.1
not providedno assertion providedliterature onlynot provided
    Epithelial Biology; Institute of Medical Biology, SingaporeSCV000088072.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    Epithelial Biology; Institute of Medical Biology, Singaporenot providednot providednot providednot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 22, 2017