rs118203963
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs118203963(C;T) |
| Make rs118203963(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 44573652 |
| Gene | SPG11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203963 |
| dbSNP (classic) | rs118203963 |
| ClinGen | rs118203963 |
| ebi | rs118203963 |
| HLI | rs118203963 |
| Exac | rs118203963 |
| Gnomad | rs118203963 |
| Varsome | rs118203963 |
| LitVar | rs118203963 |
| Map | rs118203963 |
| PheGenI | rs118203963 |
| Biobank | rs118203963 |
| 1000 genomes | rs118203963 |
| hgdp | rs118203963 |
| ensembl | rs118203963 |
| geneview | rs118203963 |
| scholar | rs118203963 |
| rs118203963 | |
| pharmgkb | rs118203963 |
| gwascentral | rs118203963 |
| openSNP | rs118203963 |
| 23andMe | rs118203963 |
| SNPshot | rs118203963 |
| SNPdbe | rs118203963 |
| MSV3d | rs118203963 |
| GWAS Ctlg | rs118203963 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118203963(G;G) rs118203963(T;T) |
| Alt | rs118203963(G;G) rs118203963(T;T) |
| Reference | Rs118203963(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 11 Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | SPG11 |
| CLNDBN | Spastic paraplegia 11, autosomal recessive Charcot-Marie-Tooth disease, axonal type 2X |
| Reversed | 1 |
| HGVS | NC_000015.9:g.44865850G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001168.6, RCV000202373.2, RCV000414837.1, |
[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.
[PMID 18332254] Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
