rs121965020

Orientation

plus

Stabilized

plus

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

Make rs121965020(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

987858

Gene	IDUA, SLC26A1

is a	snp
is	mentioned by
dbSNP	rs121965020
dbSNP (classic)	rs121965020
ClinGen	rs121965020
ebi	rs121965020
HLI	rs121965020
Exac	rs121965020
Gnomad	rs121965020
Varsome	rs121965020
LitVar	rs121965020
Map	rs121965020
PheGenI	rs121965020
Biobank	rs121965020
1000 genomes	rs121965020
hgdp	rs121965020
ensembl	rs121965020
geneview	rs121965020
scholar	rs121965020
google	rs121965020
pharmgkb	rs121965020
gwascentral	rs121965020
openSNP	rs121965020
23andMe	rs121965020
SNPshot	rs121965020
SNPdbe	rs121965020
MSV3d	rs121965020
GWAS Ctlg	rs121965020

Max Magnitude

3

aka c.208C>T (p.Gln70Ter or Q70X)

The Q70X and W402X (rs121965019)mutations are the most common Hurler syndrome mutations in most Caucasian populations studied.

OMIM	252800
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121965020(T;T)
Alt	rs121965020(T;T)
Reference	Rs121965020(C;C)
Significance	Pathogenic
Disease	Hurler syndrome not provided Mucopolysaccharidosis Mucopolysaccharidosis type I
Variation	info
Gene	SLC26A1 IDUA
CLNDBN	Hurler syndrome not provided Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.981646C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012684.27, RCV000078386.3, RCV000185562.2, RCV000185563.2, RCV000276574.1,