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NM_000345.3(SNCA):c.88G>C (p.Ala30Pro)

Variation ID: Help
14008
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 22, 2013
Number of submission(s):
1
Condition(s):
Parkinson disease 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000345.3(SNCA):c.88G>C (p.Ala30Pro)

Allele ID:
29047
Variant type:
single nucleotide variant
Cytogenetic location:
4q22
Genomic location:
  • Chr4: 89835580 (on Assembly GRCh38)
  • Chr4: 90756731 (on Assembly GRCh37)
Protein change:
A30P
HGVS:
  • NG_011851.1:g.7717G>C
  • NM_000345.3:c.88G>C
  • NP_000336.1:p.Ala30Pro
  • NC_000004.12:g.89835580C>G (GRCh38)
  • NC_000004.11:g.90756731C>G (GRCh37)
  • P37840:p.Ala30Pro
Links:
NCBI 1000 Genomes Browser:
rs104893878
Molecular consequence:
NM_000345.3:c.88G>C: missense variant [Sequence Ontology SO:0001583]

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
(Nov 22, 2013)
no assertion criteria providedliterature onlygermlineOMIMSCV000035301.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Nov 30, 2017