NM_198578.3(LRRK2):c.894T>C (p.Ala298=) AND Parkinson disease 8, autosomal dominant

Clinical significance:Uncertain significance (Last evaluated: Sep 13, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032520.1

Allele description [Variation Report for NM_198578.3(LRRK2):c.894T>C (p.Ala298=)]

NM_198578.3(LRRK2):c.894T>C (p.Ala298=)

Gene:
LRRK2:leucine rich repeat kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_198578.3(LRRK2):c.894T>C (p.Ala298=)
HGVS:
  • NC_000012.12:g.40249881T>C
  • NG_011709.1:g.29871T>C
  • NM_198578.3:c.894T>C
  • NP_940980.3:p.Ala298=
  • NC_000012.11:g.40643683T>C
  • NM_198578.3:c.893T>C
Links:
dbSNP: 57355477
NCBI 1000 Genomes Browser:
rs57355477
Molecular consequence:
  • NM_198578.3:c.894T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Parkinson disease 8, autosomal dominant (PARK8)
Synonyms:
Parkinson disease 8; Parkinson disease 8, susceptibility to; LRRK2-Related Parkinson Disease
Identifiers:
MedGen: C1846862; Orphanet: 411602; OMIM: 607060
Age of onset:
Adult

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056183GeneReviewsno assertion criteria providedunknown
(Sep 13, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000056183.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 10, 2017