Click here to see the new Variation Report design!

NM_032409.2(PINK1):c.1291T>C (p.Tyr431His)

Variation ID: Help
2416
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Oct 1, 2006
Number of submission(s):
1
Condition(s):
Parkinson disease 6[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_032409.2(PINK1):c.1291T>C (p.Tyr431His)

Allele ID:
17455
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 20649034 (on Assembly GRCh38)
  • Chr1: 20975527 (on Assembly GRCh37)
Protein change:
Y431H
HGVS:
  • NG_008164.1:g.20580T>C
  • NM_032409.2:c.1291T>C
  • NP_115785.1:p.Tyr431His
  • NC_000001.11:g.20649034T>C (GRCh38)
  • NC_000001.10:g.20975527T>C (GRCh37)
  • Q9BXM7:p.Tyr431His
Links:
NCBI 1000 Genomes Browser:
rs74315361
Molecular consequence:
NM_032409.2:c.1291T>C: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
risk factor
(Oct 1, 2006)
no assertion criteria providedliterature onlygermlineOMIMSCV000022675.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 17, 2018