{{Rsnum
|rsid=121912554
|Chromosome=7
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=IMPDH1
|position=128400120
|Gene_s=IMPDH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=146690
|rsnum=121912554
|variant=0005
}}{{ClinVar
|rsid=121912554
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=128040174
|CHROM=7
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=IMPDH1:3614
|GENE_NAME=IMPDH1
|GENE_ID=3614
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.128040174A>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=146690.0005
|CLNSIG=5
|CLNCUI=C1840284
|CLNDBN=Leber congenital amaurosis 11
|Disease=Leber congenital amaurosis 11
|CLNACC=RCV000015963.24
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1840284:613837:65
}}