{{Rsnum
|rsid=121965047
|Chromosome=10
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=OAT
|position=124401746
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OAT
}}{{omim
|id=613349
|rsnum=121965047
|variant=0018
}}{{ClinVar
|rsid=121965047
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=126090315
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=OAT:4942
|GENE_NAME=OAT
|GENE_ID=4942
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.126090315C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=613349.0018
|CLNSIG=5
|CLNCUI=CN068398
|CLNDBN=Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia; Ornithine aminotransferase deficiency
|Disease=Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia; Ornithine aminotransferase deficiency
|CLNACC=RCV000000185.1; RCV000049551.1
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN068398; C0599035:258870:414:276426004
}}{{PMID Auto
|PMID=23076989
|Title=Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
}}