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rs121908192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908192(A;A)
Make rs121908192(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1985991
GeneGFER
is asnp
is mentioned by
dbSNPrs121908192
ebirs121908192
HLIrs121908192
Exacrs121908192
Varsomers121908192
Maprs121908192
PheGenIrs121908192
hapmaprs121908192
1000 genomesrs121908192
hgdprs121908192
ensemblrs121908192
gopubmedrs121908192
geneviewrs121908192
scholarrs121908192
googlers121908192
pharmgkbrs121908192
gwascentralrs121908192
openSNPrs121908192
23andMers121908192
23andMe allrs121908192
SNP Nexus

SNPshotrs121908192
SNPdbers121908192
MSV3drs121908192
GWAS Ctlgrs121908192
Max Magnitude0
OMIM600924
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908192(A;A)
Alt rs121908192(A;A)
Reference rs121908192(G;G)
Significance Pathogenic
Disease Myopathy not provided
Variation info
Gene GFER
CLNDBN Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay not provided
Reversed 0
HGVS NC_000016.9:g.2035992G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009228.3, RCV000199876.1,


[PMID 19409522OA-icon.png] The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.