rs387907571

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6	Parkinson's disease, possible

Make rs387907571(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

132477995

Gene

DNAJC13

is a	snp
is	mentioned by
dbSNP	rs387907571
dbSNP (classic)	rs387907571
ClinGen	rs387907571
ebi	rs387907571
HLI	rs387907571
Exac	rs387907571
Gnomad	rs387907571
Varsome	rs387907571
LitVar	rs387907571
Map	rs387907571
PheGenI	rs387907571
Biobank	rs387907571
1000 genomes	rs387907571
hgdp	rs387907571
ensembl	rs387907571
geneview	rs387907571
scholar	rs387907571
google	rs387907571
pharmgkb	rs387907571
gwascentral	rs387907571
openSNP	rs387907571
23andMe	rs387907571
SNPshot	rs387907571
SNPdbe	rs387907571
MSV3d	rs387907571
GWAS Ctlg	rs387907571

Max Magnitude

6

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 24218364 ]

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 UniProtKB (protein)
CLNACC	RCV000049582.1, RCV000170476.1, RCV000170494.5,