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rs33939927

From SNPedia

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Geno Mag Summary
(A;C) 6.5 Parkinson's disease mutation, adult-onset
(C;C) 0 common in clinvar
(C;G) 6.5 Parkinson's disease mutation, adult-onset
(C;T) 6.5 Parkinson's disease mutation, adult-onset
Make rs33939927(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position40310434
GeneLRRK2
is asnp
is mentioned by
dbSNPrs33939927
dbSNP (classic)rs33939927
ClinGenrs33939927
ebirs33939927
HLIrs33939927
Exacrs33939927
Gnomadrs33939927
Varsomers33939927
LitVarrs33939927
Maprs33939927
PheGenIrs33939927
Biobankrs33939927
1000 genomesrs33939927
hgdprs33939927
ensemblrs33939927
geneviewrs33939927
scholarrs33939927
googlers33939927
pharmgkbrs33939927
gwascentralrs33939927
openSNPrs33939927
23andMers33939927
SNPshotrs33939927
SNPdbers33939927
MSV3drs33939927
GWAS Ctlgrs33939927
Max Magnitude6.5

rs33939927 represents a rare mutation in the LRRK2 gene on chromosome 12. The normal allele is (C); all three possible variants are reported as considered causative for Parkinson's disease. The three variants are also known as c.4321C>A, p.Arg1441Ser; c.4321C>T (p.Arg1441Cys); and c.4321C>G (p.Arg1441Gly).

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8).

OMIM609007
Desc
Variant0001
Relatedalso
OMIM609007
Desc
Variant0003
Relatedalso


ClinVar
Risk rs33939927(A;A) rs33939927(G;G) rs33939927(T;T)
Alt rs33939927(A;A) rs33939927(G;G) rs33939927(T;T)
Reference Rs33939927(C;C)
Significance Pathogenic
Disease Parkinson disease Parkinson disease 8
Variation info
Gene LRRK2
CLNDBN Parkinson disease, late-onset Parkinson disease 8, autosomal dominant
Reversed 0
HGVS NC_000012.11:g.40704236C>A; NC_000012.11:g.40704236C>G; NC_000012.11:g.40704236C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000210925.1, RCV000002013.3, RCV000002015.3,



[PMID 15541309] Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.


[PMID 15541308] Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.