{{Rsnum
|rsid=281875283
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=SLC33A1
|position=155853670
|Gene_s=SLC33A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=3
|CLNACC=RCV000023323.1; RCV000059633.1
|CLNALLE=1
|CLNDBN=Congenital cataracts, hearing loss, and neurodegeneration; not provided
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3280965:614482:300313
|CLNHGVS=NC_000003.11:g.155571459C>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=603690.0002; VAR_067915
|Disease=Congenital cataracts; not provided
|FwdALT=C
|FwdREF=G
|REF=C
|RSPOS=155571459
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875283
|GENEINFO=SLC33A1:9197
|GENE_ID=9197
|GENE_NAME=SLC33A1
}}{{PMID Auto
|PMID=22243965
|Title=Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
|OA=1
}}