rs80338815
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a metachromatic leukodystrophy mutation |
| (G;G) | 0 | common in clinvar |
| Make rs80338815(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50627165 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338815 |
| dbSNP (classic) | rs80338815 |
| ClinGen | rs80338815 |
| ebi | rs80338815 |
| HLI | rs80338815 |
| Exac | rs80338815 |
| Gnomad | rs80338815 |
| Varsome | rs80338815 |
| LitVar | rs80338815 |
| Map | rs80338815 |
| PheGenI | rs80338815 |
| Biobank | rs80338815 |
| 1000 genomes | rs80338815 |
| hgdp | rs80338815 |
| ensembl | rs80338815 |
| geneview | rs80338815 |
| scholar | rs80338815 |
| rs80338815 | |
| pharmgkb | rs80338815 |
| gwascentral | rs80338815 |
| openSNP | rs80338815 |
| 23andMe | rs80338815 |
| SNPshot | rs80338815 |
| SNPdbe | rs80338815 |
| MSV3d | rs80338815 |
| GWAS Ctlg | rs80338815 |
| Max Magnitude | 3 |
aka c.465+1G>A
rs28940893 and rs80338815 are considered the two most frequent variants associated with metachromatic leukodystrophy in Caucasians.
| ClinVar | |
|---|---|
| Risk | rs80338815(A;A) |
| Alt | rs80338815(A;A) |
| Reference | Rs80338815(G;G) |
| Significance | Pathogenic |
| Disease | Metachromatic leukodystrophy Metachromatic leukodystrophy Metachromatic leukodystrophy not provided |
| Variation | info |
| Gene | ARSA |
| CLNDBN | Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy not provided |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51065593C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000003192.4, RCV000003194.4, RCV000020319.5, RCV000335617.1, |
[PMID 1670590] Molecular basis of different forms of metachromatic leukodystrophy.
[PMID 7825603
] Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
[PMID 7866401] Molecular genetics of metachromatic leukodystrophy.
[PMID 8095918] Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
[PMID 9090526] Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
[PMID 11456299] Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
