{{Rsnum
|rsid=80356713
|Chromosome=X
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ABCB7
|position=75070499
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABCB7
}}{{omim
|id=300135
|rsnum=80356713
|variant=0003
}}{{ClinVar
|rsid=80356713
|Reversed=1
|FwdREF=G
|FwdALT=C,T
|REF=C
|ALT=A,G
|RSPOS=74290334
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ABCB7:22
|GENE_NAME=ABCB7
|GENE_ID=22
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000023.10:g.74290334C>G
|CLNORIGIN=1
|CLNSRCID=
NBK1321; 300135.0003
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000012332.21
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDBN=Anemia sideroblastic and spinocerebellar ataxia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1321:C1845028:301310:2802
|CLNSRC=GeneReviews; OMIM Allelic Variant
|Disease=Anemia sideroblastic and spinocerebellar ataxia
}}{{PMID Auto
|PMID=11843825
|Title=X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
}}