rs28940893
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a metachromatic leukodystrophy mutation |
| Make rs28940893(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 22 |
| Position | 50625392 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940893 |
| dbSNP (classic) | rs28940893 |
| ClinGen | rs28940893 |
| ebi | rs28940893 |
| HLI | rs28940893 |
| Exac | rs28940893 |
| Gnomad | rs28940893 |
| Varsome | rs28940893 |
| LitVar | rs28940893 |
| Map | rs28940893 |
| PheGenI | rs28940893 |
| Biobank | rs28940893 |
| 1000 genomes | rs28940893 |
| hgdp | rs28940893 |
| ensembl | rs28940893 |
| geneview | rs28940893 |
| scholar | rs28940893 |
| rs28940893 | |
| pharmgkb | rs28940893 |
| gwascentral | rs28940893 |
| openSNP | rs28940893 |
| 23andMe | rs28940893 |
| SNPshot | rs28940893 |
| SNPdbe | rs28940893 |
| MSV3d | rs28940893 |
| GWAS Ctlg | rs28940893 |
| Max Magnitude | 3 |
aka c.1283C>T (p.Pro428Leu or P428L)
rs28940893 and rs80338815 are considered the two most frequent variants associated with metachromatic leukodystrophy in Caucasians.
23andMe name: i5012765
| ClinVar | |
|---|---|
| Risk | rs28940893(T;T) |
| Alt | rs28940893(T;T) |
| Reference | Rs28940893(C;C) |
| Significance | Pathogenic |
| Disease | Metachromatic leukodystrophy Arylsulfatase a Metachromatic leukodystrophy Metachromatic leukodystrophy not provided |
| Variation | info |
| Gene | ARSA |
| CLNDBN | Metachromatic leukodystrophy, juvenile type Arylsulfatase a, allele a Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy not provided |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51063820G>A |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000003195.4, RCV000003196.4, RCV000003197.4, RCV000020314.5, RCV000392246.1, |
[PMID 1670590] Molecular basis of different forms of metachromatic leukodystrophy.
[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 11777924] Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy.
