rs80338794
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Finnish major Salla disease mutation carrier |
| (T;T) | 5 | Salla disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 73644583 |
| Gene | SLC17A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338794 |
| dbSNP (classic) | rs80338794 |
| ClinGen | rs80338794 |
| ebi | rs80338794 |
| HLI | rs80338794 |
| Exac | rs80338794 |
| Gnomad | rs80338794 |
| Varsome | rs80338794 |
| LitVar | rs80338794 |
| Map | rs80338794 |
| PheGenI | rs80338794 |
| Biobank | rs80338794 |
| 1000 genomes | rs80338794 |
| hgdp | rs80338794 |
| ensembl | rs80338794 |
| geneview | rs80338794 |
| scholar | rs80338794 |
| rs80338794 | |
| pharmgkb | rs80338794 |
| gwascentral | rs80338794 |
| openSNP | rs80338794 |
| 23andMe | rs80338794 |
| SNPshot | rs80338794 |
| SNPdbe | rs80338794 |
| MSV3d | rs80338794 |
| GWAS Ctlg | rs80338794 |
| GMAF | 0.0009183 |
| Max Magnitude | 5 |
rs80338794, also known as c.115C>T, R39C or Arg39Cys, is a rare mutation in the sialin protein SLC17A5 gene leading to Salla disease, a neurodegenerative disease primarily associated with Finland and Sweden.
23andMe name: i5012634
| ClinVar | |
|---|---|
| Risk | Rs80338794(T;T) |
| Alt | Rs80338794(T;T) |
| Reference | Rs80338794(C;C) |
| Significance | Pathogenic |
| Disease | Salla disease not provided |
| Variation | info |
| Gene | SLC17A5 |
| CLNDBN | Salla disease not provided |
| Reversed | 1 |
| HGVS | NC_000006.11:g.74354306G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005967.4, RCV000414141.1, |
[PMID 10581036] A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
[PMID 10947946
] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
[PMID 11992753] Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
[PMID 12794688] Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
[PMID 16170568] Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
