NM_000484.3(APP):c.2018C>T (p.Ala673Val)

Variation ID: Help
18106
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 13, 2009
Number of submission(s):
1
Condition(s):
Alzheimer's disease[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000484.3(APP):c.2018C>T (p.Ala673Val)

Allele ID:
33145
Variant type:
single nucleotide variant
Cytogenetic location:
21q21
Genomic location:
  • Chr21: 25897619 (on Assembly GRCh38)
  • Chr21: 27269931 (on Assembly GRCh37)
Protein change:
A673V
HGVS:
  • NG_007376.1:g.278202C>T
  • NM_000484.3:c.2018C>T
  • NP_000475.1:p.Ala673Val
  • NC_000021.9:g.25897619G>A (GRCh38)
  • NC_000021.8:g.27269931G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs193922916
Molecular consequence:
NM_000484.3:c.2018C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000484.3(APP):c.2018C>T (p.Ala673Val)

GRCh37 Chr21:27269931
Called variantsPotential variants
Sample countno data0 of 44176

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.

Browser views

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 13, 2009)
no assertion criteria providedliterature onlygermlineOMIMSCV000040032.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 8, 2017