NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro)

Variation ID: Help
18145
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro)

Allele ID:
33184
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
  • Chr14: 73171047 (on Assembly GRCh38)
  • Chr14: 73637755 (on Assembly GRCh37)
Protein change:
L113P
HGVS:
  • NG_007386.2:g.39577T>C
  • NM_000021.3:c.338T>C
  • NP_000012.1:p.Leu113Pro
  • NC_000014.9:g.73171047T>C (GRCh38)
  • NC_000014.8:g.73637755T>C (GRCh37)
  • NM_000021.2:c.338T>C
  • P49768:p.Leu113Pro
Links:
NCBI 1000 Genomes Browser:
rs63751399
Molecular consequence:
NM_000021.3:c.338T>C: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro)

GRCh37 Chr14:73637755
Called variantsPotential variants
Sample countno data0 of 44252

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.

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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
(Nov 28, 2000)
no assertion criteria providedliterature onlygermlineOMIMSCV000040073.2
Pathogenic
(Dec 23, 2010)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000040384 .1
not providedno assertion providedliterature onlynot provided
    VIB Department of Molecular Genetics, University of AntwerpSCV000116428.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    GeneReviewsnot providednot providednot providednot providednot providednot provided
    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: Jun 30, 2017