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rs104894637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a Sanfilippo syndrome type A mutation
(G;G) 8 Sanfilippo syndrome type A
ReferenceGRCh38 38.1/141
Chromosome17
Position80217084
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894637
ClinGenrs104894637
ebirs104894637
HLIrs104894637
Exacrs104894637
Varsomers104894637
Maprs104894637
PheGenIrs104894637
hapmaprs104894637
1000 genomesrs104894637
hgdprs104894637
ensemblrs104894637
gopubmedrs104894637
geneviewrs104894637
scholarrs104894637
googlers104894637
pharmgkbrs104894637
gwascentralrs104894637
openSNPrs104894637
23andMers104894637
23andMe allrs104894637
SNP Nexus

SNPshotrs104894637
SNPdbers104894637
MSV3drs104894637
GWAS Ctlgrs104894637
Max Magnitude8

rs104894637, also known as c.197C>G, p.Ser66Trp and S66W, represents a rare mutation in the SGSH gene on chromosome 17.

Although still rare, the S66W mutation is considered one of 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]

OMIM605270
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs104894637(G;G) rs104894637(T;T)
Alt Rs104894637(G;G) rs104894637(T;T)
Reference Rs104894637(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A not provided
Reversed 1
HGVS NC_000017.10:g.78190883G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005418.4, RCV000255782.1,