rs29001584
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (C;T) | 6 | ALS type 4; carrier for SCAN type 1 (possibly) |
| (T;T) | 0 | common in clinvar |
| Make rs29001584(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 132330432 |
| Gene | SETX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs29001584 |
| dbSNP (classic) | rs29001584 |
| ClinGen | rs29001584 |
| ebi | rs29001584 |
| HLI | rs29001584 |
| Exac | rs29001584 |
| Gnomad | rs29001584 |
| Varsome | rs29001584 |
| LitVar | rs29001584 |
| Map | rs29001584 |
| PheGenI | rs29001584 |
| Biobank | rs29001584 |
| 1000 genomes | rs29001584 |
| hgdp | rs29001584 |
| ensembl | rs29001584 |
| geneview | rs29001584 |
| scholar | rs29001584 |
| rs29001584 | |
| pharmgkb | rs29001584 |
| gwascentral | rs29001584 |
| openSNP | rs29001584 |
| 23andMe | rs29001584 |
| SNPshot | rs29001584 |
| SNPdbe | rs29001584 |
| MSV3d | rs29001584 |
| GWAS Ctlg | rs29001584 |
| Max Magnitude | 6 |
aka c.1166T>C (p.Leu389Ser or L389S)
Reported in ClinVar as pathogenic for both autosomal dominant amyotrophic lateral sclerosis (ALS) type 4, and, autosomal recessive spinocerebellar ataxia type 1. ALS4 is reported to be a subtype of juvenile ALS, and a news item about a 2019 conference presentation about patients with this mutation is here.
| ClinVar | |
|---|---|
| Risk | rs29001584(C;C) |
| Alt | rs29001584(C;C) |
| Reference | Rs29001584(T;T) |
| Significance | Pathogenic |
| Disease | Amyotrophic lateral sclerosis type 4 |
| Variation | info |
| Gene | SETX |
| CLNDBN | Amyotrophic lateral sclerosis type 4 |
| Reversed | 1 |
| HGVS | NC_000009.11:g.135205819A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002379.4, |
