rs28940574
From SNPedia
| Canavan disease |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Canavan disease (predicted) |
| (A;C) | 3 | Carrier of a Canavan disease mutation |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 3499060 |
| Gene | ASPA, SPATA22 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940574 |
| dbSNP (classic) | rs28940574 |
| ClinGen | rs28940574 |
| ebi | rs28940574 |
| HLI | rs28940574 |
| Exac | rs28940574 |
| Gnomad | rs28940574 |
| Varsome | rs28940574 |
| LitVar | rs28940574 |
| Map | rs28940574 |
| PheGenI | rs28940574 |
| Biobank | rs28940574 |
| 1000 genomes | rs28940574 |
| hgdp | rs28940574 |
| ensembl | rs28940574 |
| geneview | rs28940574 |
| scholar | rs28940574 |
| rs28940574 | |
| pharmgkb | rs28940574 |
| gwascentral | rs28940574 |
| openSNP | rs28940574 |
| 23andMe | rs28940574 |
| SNPshot | rs28940574 |
| SNPdbe | rs28940574 |
| MSV3d | rs28940574 |
| GWAS Ctlg | rs28940574 |
| Max Magnitude | 8 |
rs28940574, also known as c.914C>A, A305E or p.Ala305Glu, is a SNP in the ASPA gene.
rs28940574 is one of several known causal SNPs of Canavan disease. OMIM reports that in non-Jewish patients of European origin, the A305E mutation accounts for 50% of Canavan disease-associated alleles.
FTDNA & MyHeritage name: VG17S16802
| OMIM | 608034 |
| Desc | Canavan disease |
| Variant | 0003 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | Rs28940574(A;A) |
| Alt | Rs28940574(A;A) |
| Reference | Rs28940574(C;C) |
| Significance | Pathogenic |
| Disease | Spongy degeneration of central nervous system not provided |
| Variation | info |
| Gene | SPATA22 ASPA |
| CLNDBN | Spongy degeneration of central nervous system not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.3402354C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002725.3, RCV000489986.1, |
