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rs144143780

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80210822
GeneSGSH
is asnp
is mentioned by
dbSNPrs144143780
dbSNP (classic)rs144143780
ClinGenrs144143780
ebirs144143780
HLIrs144143780
Exacrs144143780
Gnomadrs144143780
Varsomers144143780
LitVarrs144143780
Maprs144143780
PheGenIrs144143780
Biobankrs144143780
1000 genomesrs144143780
hgdprs144143780
ensemblrs144143780
geneviewrs144143780
scholarrs144143780
googlers144143780
pharmgkbrs144143780
gwascentralrs144143780
openSNPrs144143780
23andMers144143780
SNPshotrs144143780
SNPdbers144143780
MSV3drs144143780
GWAS Ctlgrs144143780
Max Magnitude8

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,