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rs137854888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854888(C;C)
Make rs137854888(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position180987023
GeneDNAJC19
is asnp
is mentioned by
dbSNPrs137854888
ebirs137854888
HLIrs137854888
Exacrs137854888
Varsomers137854888
Maprs137854888
PheGenIrs137854888
hapmaprs137854888
1000 genomesrs137854888
hgdprs137854888
ensemblrs137854888
gopubmedrs137854888
geneviewrs137854888
scholarrs137854888
googlers137854888
pharmgkbrs137854888
gwascentralrs137854888
openSNPrs137854888
23andMers137854888
23andMe allrs137854888
SNP Nexus

SNPshotrs137854888
SNPdbers137854888
MSV3drs137854888
GWAS Ctlgrs137854888
Max Magnitude0
OMIM608977
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854888(C;C)
Alt rs137854888(C;C)
Reference rs137854888(G;G)
Significance Pathogenic
Disease 3-methylglutaconic aciduria type V
Variation info
Gene DNAJC19
CLNDBN 3-methylglutaconic aciduria type V
Reversed 1
HGVS NC_000003.11:g.180704811C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002028.3,


[PMID 16055927OA-icon.png] Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.