rs104886461

Mucolipidosis type IV, an autosomal recessive neurodegenerative lysosomal storage disorder

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	normal
(A;G)	3	Carrier of mucolipidosis type IV mutation
(G;G)	8	Mucolipidosis type IV

Reference

GRCh38 38.1/141

Chromosome

19

Position

7526759

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs104886461
dbSNP (classic)	rs104886461
ClinGen	rs104886461
ebi	rs104886461
HLI	rs104886461
Exac	rs104886461
Gnomad	rs104886461
Varsome	rs104886461
LitVar	rs104886461
Map	rs104886461
PheGenI	rs104886461
Biobank	rs104886461
1000 genomes	rs104886461
hgdp	rs104886461
ensembl	rs104886461
geneview	rs104886461
scholar	rs104886461
google	rs104886461
pharmgkb	rs104886461
gwascentral	rs104886461
openSNP	rs104886461
23andMe	rs104886461
SNPshot	rs104886461
SNPdbe	rs104886461
MSV3d	rs104886461
GWAS Ctlg	rs104886461

Max Magnitude

8

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

OMIM	605248
Desc
Variant	0001
Related	also

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,