{{Rsnum
|rsid=121917849
|Chromosome=8
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=TTPA
|position=63072990
|Gene_s=TTPA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=121917849
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=63985549
|CHROM=8
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=TTPA:7274
|GENE_NAME=TTPA
|GENE_ID=7274
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.63985549A>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000009708.1; RCV000055795.1
|CLNDBN=Ataxia and retinitis pigmentosa with isolated vitamin e deficiency; Ataxia with vitamin E deficiency
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1241; 600415.0002
|Disease=Ataxia and retinitis pigmentosa with isolated vitamin e deficiency; Ataxia with vitamin E deficiency
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1241:C1848533:277460:96
}}