rs121965019

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a mucopolysaccharidosis type 1 mutation
(G;G)	0	common in clinvar

Make rs121965019(A;A)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1002747

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965019
dbSNP (classic)	rs121965019
ClinGen	rs121965019
ebi	rs121965019
HLI	rs121965019
Exac	rs121965019
Gnomad	rs121965019
Varsome	rs121965019
LitVar	rs121965019
Map	rs121965019
PheGenI	rs121965019
Biobank	rs121965019
1000 genomes	rs121965019
hgdp	rs121965019
ensembl	rs121965019
geneview	rs121965019
scholar	rs121965019
google	rs121965019
pharmgkb	rs121965019
gwascentral	rs121965019
openSNP	rs121965019
23andMe	rs121965019
SNPshot	rs121965019
SNPdbe	rs121965019
MSV3d	rs121965019
GWAS Ctlg	rs121965019

Max Magnitude

3

aka c.1205G>A (p.Trp402Ter or W402X)

The W402X and Q70X (rs121965020) mutations are the most common Hurler syndrome mutations in most Caucasian populations studied.

OMIM	252800
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121965019(A;A)
Alt	rs121965019(A;A)
Reference	Rs121965019(G;G)
Significance	Pathogenic
Disease	Hurler syndrome not provided Mucopolysaccharidosis type I Mucopolysaccharidosis
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome not provided Mucopolysaccharidosis type I Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S
Reversed	0
HGVS	NC_000004.11:g.996535G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012683.29, RCV000078374.4, RCV000384297.3, RCV000477890.1,