{{Rsnum
|rsid=121908372
|Chromosome=19
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=MCOLN1
|position=7528920
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MCOLN1
}}{{omim
|id=605248
|rsnum=121908372
|variant=0005
}}{{ClinVar
|rsid=121908372
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=7593806
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=MCOLN1:57192
|GENE_NAME=MCOLN1
|GENE_ID=57192
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.7593806G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605248.0005
|CLNSIG=5
|CLNCUI=C0238286
|CLNDBN=Ganglioside sialidase deficiency
|Disease=Ganglioside sialidase deficiency
|CLNACC=RCV000005442.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1214:C0238286:252650:578:111384001
}}