NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr)

Variation ID: Help
12298
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 1, 2011
Number of submission(s):
1
Condition(s):
Parkinson disease 5[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr)

Allele ID:
27337
Variant type:
single nucleotide variant
Cytogenetic location:
4p13
Genomic location:
  • Chr4: 41257616 (on Assembly GRCh38)
  • Chr4: 41259633 (on Assembly GRCh37)
Protein change:
S18Y
HGVS:
  • NG_012931.1:g.5736C>A
  • NM_004181.4:c.53C>A
  • NC_000004.12:g.41257616C>A (GRCh38)
  • NP_004172.2:p.Ser18Tyr
  • NC_000004.11:g.41259633C>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs5030732
Molecular consequence:
NM_004181.4:c.53C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.09859 (A)
  • GMAF 0.25400 (A)

Variant frequency in dbGaP Help

NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr)

GRCh37 Chr4:41259633
Called variantsPotential variants
Sample count2552 of 94317333 of 25257

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 name
(Last submitted)
Submission accession
Uncertain significance
(Jun 1, 2011)
no assertion criteria providedliterature onlygermlineOMIM

(Dec 30, 2010)

SCV000033338.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedParkinson disease 5 (not provided)not providednot providedAmong 3,023 white individuals, Healy et al. (2006) found that the S18Y variant was not protective against PD under any genetic mode of inheritance. Fu…Full description

Last Updated: Jan 20, 2016