rs267607084
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs267607084(C;T) |
| Make rs267607084(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 44663530 |
| Gene | SPG11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607084 |
| dbSNP (classic) | rs267607084 |
| ClinGen | rs267607084 |
| ebi | rs267607084 |
| HLI | rs267607084 |
| Exac | rs267607084 |
| Gnomad | rs267607084 |
| Varsome | rs267607084 |
| LitVar | rs267607084 |
| Map | rs267607084 |
| PheGenI | rs267607084 |
| Biobank | rs267607084 |
| 1000 genomes | rs267607084 |
| hgdp | rs267607084 |
| ensembl | rs267607084 |
| geneview | rs267607084 |
| scholar | rs267607084 |
| rs267607084 | |
| pharmgkb | rs267607084 |
| gwascentral | rs267607084 |
| openSNP | rs267607084 |
| 23andMe | rs267607084 |
| SNPshot | rs267607084 |
| SNPdbe | rs267607084 |
| MSV3d | rs267607084 |
| GWAS Ctlg | rs267607084 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267607084(T;T) |
| Alt | rs267607084(T;T) |
| Reference | Rs267607084(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | SPG11 |
| CLNDBN | Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease, axonal type 2X |
| Reversed | 1 |
| HGVS | NC_000015.9:g.44955728G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001170.7, RCV000193032.4, RCV000202382.2, |
[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
