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NM_000484.3(APP):c.2137G>A (p.Ala713Thr)

Variation ID: Help
18094
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000484.3(APP):c.2137G>A (p.Ala713Thr)

Allele ID:
33133
Variant type:
single nucleotide variant
Cytogenetic location:
21q21
Genomic location:
  • Chr21: 25891796 (on Assembly GRCh38)
  • Chr21: 27264108 (on Assembly GRCh37)
Protein change:
A713T
HGVS:
  • NG_007376.1:g.284025G>A
  • NM_000484.3:c.2137G>A
  • NP_000475.1:p.Ala713Thr
  • NC_000021.9:g.25891796C>T (GRCh38)
  • NC_000021.8:g.27264108C>T (GRCh37)
  • P05067:p.Ala713Thr
Links:
NCBI 1000 Genomes Browser:
rs63750066
Molecular consequence:
NM_000484.3:c.2137G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00020 (T)
  • ExAC 0.00006 (T)

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
Uncertain significance
(May 30, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000622178.1
    Pathogenic
    (Sep 14, 2004)
    no assertion criteria providedliterature only
    • Alzheimer disease, type 1[MedGen]
    germlineOMIMSCV000040019.2
    not providedno assertion providedliterature onlynot provided
      VIB Department of Molecular Genetics, University of AntwerpSCV000116702.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, not providednot providednot provided
      Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      VIB Department of Molecular Genetics, University of Antwerpnot providednot providednot providednot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 3, 2018