NM_001287174.1(ABCC8):c.4519G>A (p.Glu1507Lys)

Variation ID: Help
9097
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001287174.1(ABCC8):c.4519G>A (p.Glu1507Lys)

Allele ID:
24136
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
  • Chr11: 17394295 (on Assembly GRCh38)
  • Chr11: 17415842 (on Assembly GRCh37)
Protein change:
E1506K, E1507K
HGVS:
  • NG_008867.1:g.87608G>A
  • NM_000352.4:c.4516G>A
  • NM_001287174.1:c.4519G>A
  • NP_000343.2:p.Glu1506Lys
  • NP_001274103.1:p.Glu1507Lys
  • NC_000011.10:g.17394295C>T (GRCh38)
  • NC_000011.9:g.17415842C>T (GRCh37)
  • NM_000352.3:c.4516G>A
Links:
NCBI 1000 Genomes Browser:
rs137852671
Molecular consequence:
NM_001287174.1:c.4519G>A: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
(Mar 11, 2015)
criteria provided, single submitter
clinical testinggermline
    Genetic Services Laboratory, University of ChicagoSCV000246303.1
    Pathogenic
    (Oct 7, 2015)
    no assertion criteria providedclinical testinggermline
      Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
      Study description
      SCV000256805.1
      Pathogenic
      (Aug 1, 2008)
      no assertion criteria providedliterature onlygermlineOMIMSCV000029883.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided1germlinenot providednot provided
      Division of Genomic Diagnostics,The Children's Hospital of Philadelphianot provided1germlinenot providednot providednot providednot provided
      Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 20, 2017