{{Rsnum
|rsid=104886461
|Gene=MCOLN1
|Chromosome=19
|position=7526759
|Orientation=plus
|Summary=Mucolipidosis type IV, an autosomal recessive neurodegenerative lysosomal storage disorder
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MCOLN1
}}[[rs104886461]], also known as IVS3-2A>G or IVS3-2A-G, is a mutation in the mucolipin-1 [[MCOLN1]] gene. This SNP represents the most common mutation in [[Ashkenazi Jews]] leading to [[Mucolipidosis type IV]], an autosomal recessive neurodegenerative lysosomal storage disorder. Somewhere between 1 in 50 and 1 in 150 individuals of Ashkenazi Jewish ancestry are estimated to be (heterozygous) carriers for this SNP.

Screening of [[Ashkenazi Jews]] for carriers of this SNP is recommended by the American College of Medical Genetics ([http://www.acmg.net/AM/Template.cfm?Section=Practice_Guidelines&Template=/CM/HTMLDisplay.cfm&ContentID=5708 ACMG]; [http://www.acmg.net/AM/Template.cfm?Section=Practice_Guidelines&Template=/CM/ContentDisplay.cfm&ContentID=2746]).

See also: OMIM [http://www.ncbi.nlm.nih.gov/omim/605248?db=omim&dopt=Detailed#605248Variants0001 605248.0001]
{{omim
|id=605248
|rsnum=104886461
|variant=0001
}}{{ClinVar
|rsid=104886461
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=7591645
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000040002110100
|GENEINFO=MCOLN1:57192
|GENE_NAME=MCOLN1
|GENE_ID=57192
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.7591645A>G
|CLNSRC=GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000500481; 605248.0001
|CLNSIG=5
|CLNCUI=C0238286
|CLNDBN=Ganglioside sialidase deficiency; not provided
|Disease=Ganglioside sialidase deficiency; not provided
|CLNACC=RCV000005438.1; RCV000058927.1
|Tags=PM;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1214:C0238286:252650:578:111384001
}}