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NM_032409.2(PINK1):c.938C>T (p.Thr313Met)

Variation ID: Help
2413
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 2006
Number of submission(s):
1
Condition(s):
Parkinson disease 6, autosomal recessive early-onset[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_032409.2(PINK1):c.938C>T (p.Thr313Met)

Allele ID:
17452
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 20644651 (on Assembly GRCh38)
  • Chr1: 20971144 (on Assembly GRCh37)
Protein change:
T313M
HGVS:
  • NG_008164.1:g.16197C>T
  • NM_032409.2:c.938C>T
  • NP_115785.1:p.Thr313Met
  • NC_000001.11:g.20644651C>T (GRCh38)
  • NC_000001.10:g.20971144C>T (GRCh37)
  • Q9BXM7:p.Thr313Met
Links:
NCBI 1000 Genomes Browser:
rs74315359
Molecular consequence:
NM_032409.2:c.938C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00020 (T)
  • ExAC 0.00001 (T)

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
(Oct 1, 2006)
no assertion criteria providedliterature only
  • Parkinson disease 6, autosomal recessive early-onset[MedGen | OMIM]
germlineOMIMSCV000022672.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017