NM_005555.3(KRT6B):c.1414G>A (p.Glu472Lys)

Variation ID: Help
14633
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_005555.3(KRT6B):c.1414G>A (p.Glu472Lys)

Allele ID:
29672
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.1
Genomic location:
  • Chr12: 52447788 (on Assembly GRCh38)
  • Chr12: 52841572 (on Assembly GRCh37)
Protein change:
E472K
HGVS:
  • NG_008299.1:g.9339G>A
  • NM_005555.3:c.1414G>A
  • NP_005546.2:p.Glu472Lys
  • NC_000012.12:g.52447788C>T (GRCh38)
  • NC_000012.11:g.52841572C>T (GRCh37)
  • P04259:p.Glu472Lys
Links:
NCBI 1000 Genomes Browser:
rs60627726
Molecular consequence:
NM_005555.3:c.1414G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_005555.3(KRT6B):c.1414G>A (p.Glu472Lys)

GRCh37 Chr12:52841572
Called variantsPotential variants
Sample countno data0 of 41232

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
(Jun 17, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000321847.4
    Pathogenic
    (Oct 1, 2005)
    no assertion criteria providedliterature onlygermlineOMIMSCV000036004.2
    not providedno assertion providedliterature onlynot provided
      Epithelial Biology; Institute of Medical Biology, SingaporeSCV000088136.1
      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
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe E472K variant in the KRT6B…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 19, 2017