{{Rsnum
|rsid=121908192
|Chromosome=16
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GFER
|position=1985991
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GFER
}}{{omim
|id=600924
|rsnum=121908192
|variant=0001
}}{{ClinVar
|rsid=121908192
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=2035992
|CHROM=16
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=GFER:2671
|GENE_NAME=GFER
|GENE_ID=2671
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.2035992G>A
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=600924.0001; VAR_063435
|CLNSIG=5
|CLNCUI=C2751320
|CLNDBN=Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
|Disease=Myopathy
|CLNACC=RCV000009228.2
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751320:613076:330054
}}{{PMID|19409522|OA=1
}} The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.