rs144143780

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Geno	Mag	Summary
(C;C)	8	Sanfilippo syndrome type A
(C;T)	3	Carrier for a Sanfilippo syndrome type A mutation
(T;T)	0	common/normal

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

80210822

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs144143780
dbSNP (classic)	rs144143780
ClinGen	rs144143780
ebi	rs144143780
HLI	rs144143780
Exac	rs144143780
Gnomad	rs144143780
Varsome	rs144143780
LitVar	rs144143780
Map	rs144143780
PheGenI	rs144143780
Biobank	rs144143780
1000 genomes	rs144143780
hgdp	rs144143780
ensembl	rs144143780
geneview	rs144143780
scholar	rs144143780
google	rs144143780
pharmgkb	rs144143780
gwascentral	rs144143780
openSNP	rs144143780
23andMe	rs144143780
SNPshot	rs144143780
SNPdbe	rs144143780
MSV3d	rs144143780
GWAS Ctlg	rs144143780

Max Magnitude

8

rs144143780, also known as c.1139A>G, p.Gln380Arg and Q380R, represents a rare mutation in the SGSH gene on chromosome 17.

Although still rare, the Q380R mutation is considered one of the most frequent pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).[PMID 21061399]

ClinVar
Risk	Rs144143780(C;C)
Alt	Rs144143780(C;C)
Reference	Rs144143780(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	SGSH
CLNDBN	not provided
Reversed	0
HGVS	NC_000017.10:g.78184621T>C
CLNSRC
CLNACC	RCV000309724.1,