rs74315455
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a metachromatic leukodystrophy mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a metachromatic leukodystrophy mutation |
| Make rs74315455(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50627329 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315455 |
| dbSNP (classic) | rs74315455 |
| ClinGen | rs74315455 |
| ebi | rs74315455 |
| HLI | rs74315455 |
| Exac | rs74315455 |
| Gnomad | rs74315455 |
| Varsome | rs74315455 |
| LitVar | rs74315455 |
| Map | rs74315455 |
| PheGenI | rs74315455 |
| Biobank | rs74315455 |
| 1000 genomes | rs74315455 |
| hgdp | rs74315455 |
| ensembl | rs74315455 |
| geneview | rs74315455 |
| scholar | rs74315455 |
| rs74315455 | |
| pharmgkb | rs74315455 |
| gwascentral | rs74315455 |
| openSNP | rs74315455 |
| 23andMe | rs74315455 |
| SNPshot | rs74315455 |
| SNPdbe | rs74315455 |
| MSV3d | rs74315455 |
| GWAS Ctlg | rs74315455 |
| Max Magnitude | 3 |
aka c.302G>T (p.Gly101Val) and also c.302G>A (p.Gly101Asp); both are pathogenic according to ClinVar
23andMe name for c.302G>A: i5004778
| ClinVar | |
|---|---|
| Risk | rs74315455(A;A) rs74315455(T;T) |
| Alt | rs74315455(A;A) rs74315455(T;T) |
| Reference | Rs74315455(G;G) |
| Significance | Pathogenic |
| Disease | not provided Metachromatic leukodystrophy Metachromatic leukodystrophy not specified |
| Variation | info |
| Gene | ARSA |
| CLNDBN | not provided Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy not specified |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51065757C>A; NC_000022.10:g.51065757C>T |
| CLNSRC | UniProtKB (variants) OMIM Allelic Variant |
| CLNACC | RCV000058960.1, RCV000003198.2, RCV000020318.2, RCV000377469.1, |
[PMID 1673291
] Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
[PMID 10477432] Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
