LRRK2:c.7067C>T (p.Thr2356Ile) AND Parkinson disease 8, autosomal dominant

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

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032506.1

Allele description [Variation Report for LRRK2:c.7067C>T (p.Thr2356Ile)]

Gene:
LRRK2:leucine-rich repeat kinase 2 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
LRRK2:c.7067C>T (p.Thr2356Ile)
HGVS:
  • NC_000012.12:g.40363440C>T
  • NG_011709.1:g.143430C>T
  • NM_198578.3:c.7067C>T
  • NP_940980.3:p.Thr2356Ile
  • NC_000012.11:g.40757242C>T
Protein change:
T2356I
Links:
GeneReviews: NBK1208; dbSNP: 113511708
NCBI 1000 Genomes Browser:
rs113511708
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_198578.3:c.7067C>T: missense variant [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Parkinson disease 8, autosomal dominant (PARK8)
Synonyms:
Parkinson disease 8; LRRK2-Related Parkinson Disease
Identifiers:
GeneReviews: NBK1208; MedGen: C1846862; OMIM: 607060; Orphanet: 2828
Age of onset:
Adulthood
Prevalence:
1-5 / 10 000 2828

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000056169GeneReviewsunknown
(Sep 13, 2012)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000056169.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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