rs104894635

minus

Geno	Mag	Summary
(A;A)	8	Sanfilippo syndrome type A
(A;G)	3	Carrier for a Sanfilippo syndrome type A mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

17

Position

80213815

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs104894635
dbSNP (classic)	rs104894635
ClinGen	rs104894635
ebi	rs104894635
HLI	rs104894635
Exac	rs104894635
Gnomad	rs104894635
Varsome	rs104894635
LitVar	rs104894635
Map	rs104894635
PheGenI	rs104894635
Biobank	rs104894635
1000 genomes	rs104894635
hgdp	rs104894635
ensembl	rs104894635
geneview	rs104894635
scholar	rs104894635
google	rs104894635
pharmgkb	rs104894635
gwascentral	rs104894635
openSNP	rs104894635
23andMe	rs104894635
SNPshot	rs104894635
SNPdbe	rs104894635
MSV3d	rs104894635
GWAS Ctlg	rs104894635

Max Magnitude

8

rs104894635, also known as c.734G>A, p.Arg245His and R245H, represents a rare mutation in the SGSH gene on chromosome 17.

Although still rare, the R245H mutation is considered the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).[PMID 21061399]

OMIM	605270
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs104894635(A;A) rs104894635(T;T)
Alt	Rs104894635(A;A) rs104894635(T;T)
Reference	Rs104894635(G;G)
Significance	Pathogenic
Disease	not specified Mucopolysaccharidosis not provided Sanfilippo syndrome
Variation	info
Gene	SGSH
CLNDBN	not specified Mucopolysaccharidosis, MPS-III-A not provided Sanfilippo syndrome
Reversed	1
HGVS	NC_000017.10:g.78187614C>A; NC_000017.10:g.78187614C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000179273.1, RCV000005414.6, RCV000078356.4, RCV000348775.1,