NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg)

Variation ID: Help
96730
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jan 22, 2014
Number of submission(s):
1
Condition(s):
Parkinson disease, late-onset[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg)

Allele ID:
102616
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
  • Chr12: 40283985 (on Assembly GRCh38)
  • Chr12: 40677787 (on Assembly GRCh37)
Protein change:
S784R
HGVS:
  • NG_011709.1:g.63975C>A
  • NM_198578.3:c.2352C>A
  • NP_940980.3:p.Ser784Arg
  • NC_000012.12:g.40283985C>A (GRCh38)
  • NC_000012.11:g.40677787C>A (GRCh37)
Links:
dbSNP: 398124660
NCBI 1000 Genomes Browser:
rs398124660
Molecular consequence:
NM_198578.3:c.2352C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00013 (A)

Variant frequency in dbGaP Help

NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg)

GRCh37 Chr12:40677787
Called variantsPotential variants
Sample count4 of 50903 of 40775

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 nameSubmission accession
Uncertain significance
(Jan 22, 2014)
no assertion criteria providedresearchnot provided
    Neurogenetic Laboratory,Oslo University HospitalSCV000114940.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Neurogenetic Laboratory,Oslo University Hospitalnot providednot providednot providednot providedEuropeannot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 7, 2017