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rs104894635

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome17
Position80213815
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894635
ClinGenrs104894635
ebirs104894635
HLIrs104894635
Exacrs104894635
Varsomers104894635
Maprs104894635
PheGenIrs104894635
hapmaprs104894635
1000 genomesrs104894635
hgdprs104894635
ensemblrs104894635
gopubmedrs104894635
geneviewrs104894635
scholarrs104894635
googlers104894635
pharmgkbrs104894635
gwascentralrs104894635
openSNPrs104894635
23andMers104894635
23andMe allrs104894635
SNP Nexus

SNPshotrs104894635
SNPdbers104894635
MSV3drs104894635
GWAS Ctlgrs104894635
Max Magnitude8

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]

OMIM605270
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs104894635(A;A)
Alt Rs104894635(A;A)
Reference Rs104894635(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN not provided Mucopolysaccharidosis, MPS-III-A
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, RCV000005414.5, RCV000078356.4,