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NM_000484.3(APP):c.2078A>G (p.Glu693Gly)

Variation ID: Help
18098
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000484.3(APP):c.2078A>G (p.Glu693Gly)

Allele ID:
33137
Variant type:
single nucleotide variant
Cytogenetic location:
21q21
Genomic location:
  • Chr21: 25891855 (on Assembly GRCh38)
  • Chr21: 27264167 (on Assembly GRCh37)
Protein change:
E693G
HGVS:
  • NG_007376.1:g.283966A>G
  • NM_000484.3:c.2078A>G
  • NP_000475.1:p.Glu693Gly
  • NC_000021.9:g.25891855T>C (GRCh38)
  • NC_000021.8:g.27264167T>C (GRCh37)
  • NM_000484.2:c.2078A>G
  • P05067:p.Glu693Gly
Links:
NCBI 1000 Genomes Browser:
rs63751039
Molecular consequence:
NM_000484.3:c.2078A>G: missense variant [Sequence Ontology SO:0001583]

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
(Apr 1, 2008)
no assertion criteria providedliterature only
  • Alzheimer disease, type 1[MedGen]
germlineOMIMSCV000040023.1
Pathogenic
(Apr 1, 2008)
no assertion criteria providedliterature only
  • Cerebral amyloid angiopathy, APP-related[MedGen | OMIM]
germlineOMIMSCV000040024.1
Pathogenic
(Dec 23, 2010)
no assertion criteria providedcurationnot providedGeneReviewsSCV000040682.2
not providedno assertion providedliterature onlynot provided
    VIB Department of Molecular Genetics, University of AntwerpSCV000116699.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…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