rs121965021

Orientation

plus

Stabilized

plus

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

Make rs121965021(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1003418

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965021
dbSNP (classic)	rs121965021
ClinGen	rs121965021
ebi	rs121965021
HLI	rs121965021
Exac	rs121965021
Gnomad	rs121965021
Varsome	rs121965021
LitVar	rs121965021
Map	rs121965021
PheGenI	rs121965021
Biobank	rs121965021
1000 genomes	rs121965021
hgdp	rs121965021
ensembl	rs121965021
geneview	rs121965021
scholar	rs121965021
google	rs121965021
pharmgkb	rs121965021
gwascentral	rs121965021
openSNP	rs121965021
23andMe	rs121965021
SNPshot	rs121965021
SNPdbe	rs121965021
MSV3d	rs121965021
GWAS Ctlg	rs121965021

Max Magnitude

3

aka c.1598C>T (p.Pro533Leu or P533L)

OMIM	252800
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121965021(G;G)
Alt	rs121965021(G;G)
Reference	Rs121965021(C;C)
Significance	Pathogenic
Disease	Hurler syndrome Mucopolysaccharidosis type I not provided
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome Mucopolysaccharidosis type I not provided
Reversed	0
HGVS	NC_000004.11:g.997206C>G; NC_000004.11:g.997206C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012685.16, RCV000208595.1, RCV000486848.1, RCV000493029.1,