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NM_000484.3(APP):c.2080G>A (p.Asp694Asn)

Variation ID: Help
18101
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000484.3(APP):c.2080G>A (p.Asp694Asn)

Allele ID:
33140
Variant type:
single nucleotide variant
Cytogenetic location:
21q21
Genomic location:
  • Chr21: 25891853 (on Assembly GRCh38)
  • Chr21: 27264165 (on Assembly GRCh37)
Protein change:
N694D, D563N, D584N, D601N, D619N, D638N, D657N, D670N, D675N, D676N, D694N
HGVS:
  • NG_007376.1:g.283968G>A
  • NM_000484.3:c.2080G>A
  • NM_001136016.3:c.2008G>A
  • NM_001136129.2:c.1687G>A
  • NM_001136130.2:c.1912G>A
  • NM_001136131.2:c.1750G>A
  • NM_001204301.1:c.2026G>A
  • NM_001204302.1:c.1969G>A
  • NM_001204303.1:c.1801G>A
  • NM_201413.2:c.2023G>A
  • NM_201414.2:c.1855G>A
  • NP_000475.1:p.Asp694Asn
  • NP_001129488.1:p.Asp670Asn
  • NP_001129601.1:p.Asp563Asn
  • NP_001129602.1:p.Asp638Asn
  • NP_001129603.1:p.Asp584Asn
  • NP_001191230.1:p.Asp676Asn
  • NP_001191231.1:p.Asp657Asn
  • NP_001191232.1:p.Asp601Asn
  • NP_958816.1:p.Asp675Asn
  • NP_958817.1:p.Asp619Asn
  • NC_000021.9:g.25891853C>T (GRCh38)
  • NC_000021.8:g.27264165C>T (GRCh37)
  • P05067:p.Asp694Asn
Links:
NCBI 1000 Genomes Browser:
rs63749810
Molecular consequence:
NM_000484.3:c.2080G>A: 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
(Feb 17, 2018)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000814663.1
Pathogenic
(Mar 25, 2003)
no assertion criteria providedliterature only
  • Cerebral amyloid angiopathy, APP-related[MedGen | OMIM]
germlineOMIMSCV000040027.2
not providedno assertion providedliterature onlynot provided
    VIB Department of Molecular Genetics, University of AntwerpSCV000116700.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    Invitaenot providednot providedgermlinenot 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