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rs104886461

From SNPedia

Mucolipidosis type IV, an autosomal recessive neurodegenerative lysosomal storage disorder
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 3 Carrier of mucolipidosis type IV mutation
(G;G) 8 Mucolipidosis type IV
ReferenceGRCh38 38.1/141
Chromosome19
Position7526759
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs104886461
ebirs104886461
HLIrs104886461
Exacrs104886461
Varsomers104886461
Maprs104886461
PheGenIrs104886461
hapmaprs104886461
1000 genomesrs104886461
hgdprs104886461
ensemblrs104886461
gopubmedrs104886461
geneviewrs104886461
scholarrs104886461
googlers104886461
pharmgkbrs104886461
gwascentralrs104886461
openSNPrs104886461
23andMers104886461
23andMe allrs104886461
SNP Nexus

SNPshotrs104886461
SNPdbers104886461
MSV3drs104886461
GWAS Ctlgrs104886461
Max Magnitude8
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 (ACMG; [1]).

See also: OMIM 605248.0001

OMIM605248
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104886461(G;G)
Alt rs104886461(G;G)
Reference rs104886461(A;A)
Significance Pathogenic
Disease Ganglioside sialidase deficiency not provided
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency not provided
Reversed 0
HGVS NC_000019.9:g.7591645A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005438.4, RCV000058927.1,