rs104894637
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80217084 |
| Gene | SGSH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894637 |
| dbSNP (classic) | rs104894637 |
| ClinGen | rs104894637 |
| ebi | rs104894637 |
| HLI | rs104894637 |
| Exac | rs104894637 |
| Gnomad | rs104894637 |
| Varsome | rs104894637 |
| LitVar | rs104894637 |
| Map | rs104894637 |
| PheGenI | rs104894637 |
| Biobank | rs104894637 |
| 1000 genomes | rs104894637 |
| hgdp | rs104894637 |
| ensembl | rs104894637 |
| geneview | rs104894637 |
| scholar | rs104894637 |
| rs104894637 | |
| pharmgkb | rs104894637 |
| gwascentral | rs104894637 |
| openSNP | rs104894637 |
| 23andMe | rs104894637 |
| SNPshot | rs104894637 |
| SNPdbe | rs104894637 |
| MSV3d | rs104894637 |
| GWAS Ctlg | rs104894637 |
| Max Magnitude | 8 |
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]
| 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, |
