{{Rsnum
|rsid=397515634
|Chromosome=4
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=UCHL1
|position=41256996
|Gene_s=UCHL1,UCHL1-AS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=4
|CLNACC=RCV000074332.15
|CLNALLE=1
|CLNDBN=Neurodegeneration with optic atrophy, childhood-onset
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN180639:615491:352654
|CLNHGVS=NC_000004.11:g.41259013A>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=191342.0003
|Disease=Neurodegeneration with optic atrophy
|FwdALT=C
|FwdREF=A
|GENEINFO=UCHL1-AS1:101410542; UCHL1:7345
|GENE_ID=101410542; 7345
|GENE_NAME=UCHL1-AS1; UCHL1
|REF=A
|RSPOS=41259013
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515634
}}