rs312262716
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (ATATT;ATATT) | 0 | common in clinvar |
| Make rs312262716(-;-) |
| Make rs312262716(-;ATATT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 44659213 |
| Gene | SPG11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs312262716 |
| dbSNP (classic) | rs312262716 |
| ClinGen | rs312262716 |
| ebi | rs312262716 |
| HLI | rs312262716 |
| Exac | rs312262716 |
| Gnomad | rs312262716 |
| Varsome | rs312262716 |
| LitVar | rs312262716 |
| Map | rs312262716 |
| PheGenI | rs312262716 |
| Biobank | rs312262716 |
| 1000 genomes | rs312262716 |
| hgdp | rs312262716 |
| ensembl | rs312262716 |
| geneview | rs312262716 |
| scholar | rs312262716 |
| rs312262716 | |
| pharmgkb | rs312262716 |
| gwascentral | rs312262716 |
| openSNP | rs312262716 |
| 23andMe | rs312262716 |
| SNPshot | rs312262716 |
| SNPdbe | rs312262716 |
| MSV3d | rs312262716 |
| GWAS Ctlg | rs312262716 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs312262716(-;-) |
| Alt | rs312262716(-;-) |
| Reference | Rs312262716(ATATT;ATATT) |
| 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.44951411_44951415delAATAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001169.6, RCV000202378.2, |
[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
