Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Parkinson's disease, possible
Make rs387907571(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position132477995
GeneDNAJC13
is asnp
is mentioned by
dbSNPrs387907571
ebirs387907571
HLIrs387907571
Exacrs387907571
Varsomers387907571
Maprs387907571
PheGenIrs387907571
hapmaprs387907571
1000 genomesrs387907571
hgdprs387907571
ensemblrs387907571
gopubmedrs387907571
geneviewrs387907571
scholarrs387907571
googlers387907571
pharmgkbrs387907571
gwascentralrs387907571
openSNPrs387907571
23andMers387907571
23andMe allrs387907571
SNP Nexus

SNPshotrs387907571
SNPdbers387907571
MSV3drs387907571
GWAS Ctlgrs387907571
Max Magnitude6

rs387907571, also known as Asn855Ser, represents a rare mutation occurring in exon 24 of the DNAJC13 gene on chromosome 3.

The rs387907571(G) allele has been reported to be a causative mutation for autosomal dominant Parkinson's disease, found primarily in patients with Dutch-German-Russian Mennonite heritage.[PMID 24218364OA-icon.png]

A subsequent study of almost 2,000 Caucasian Parkinson's patients did not reveal this mutation (or any other in exon 24 of this gene), so rs387907571 is not a common cause of Parkinson's disease.[PMID 26278106]


ClinVar
Risk rs387907571(G;G)
Alt rs387907571(G;G)
Reference rs387907571(A;A)
Significance Pathogenic
Disease Parkinson disease Essential tremor Parkinson disease 21
Variation info
Gene DNAJC13
CLNDBN Parkinson disease, late-onset Essential tremor Parkinson disease 21
Reversed 0
HGVS NC_000003.11:g.132196839A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049582.1, RCV000170476.1, RCV000170494.4,