rs312262720
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common in clinvar |
| Make rs312262720(-;-) |
| Make rs312262720(-;AT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 44657230 |
| Gene | SPG11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs312262720 |
| dbSNP (classic) | rs312262720 |
| ClinGen | rs312262720 |
| ebi | rs312262720 |
| HLI | rs312262720 |
| Exac | rs312262720 |
| Gnomad | rs312262720 |
| Varsome | rs312262720 |
| LitVar | rs312262720 |
| Map | rs312262720 |
| PheGenI | rs312262720 |
| Biobank | rs312262720 |
| 1000 genomes | rs312262720 |
| hgdp | rs312262720 |
| ensembl | rs312262720 |
| geneview | rs312262720 |
| scholar | rs312262720 |
| rs312262720 | |
| pharmgkb | rs312262720 |
| gwascentral | rs312262720 |
| openSNP | rs312262720 |
| 23andMe | rs312262720 |
| SNPshot | rs312262720 |
| SNPdbe | rs312262720 |
| MSV3d | rs312262720 |
| GWAS Ctlg | rs312262720 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs312262720(-;-) |
| Alt | rs312262720(-;-) |
| Reference | Rs312262720(AT;AT) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 not provided |
| Variation | info |
| Gene | SPG11 |
| CLNDBN | Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5 not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.44949428_44949429delAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001171.6, RCV000193699.2, RCV000256068.1, |
[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
[PMID 17717710] SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
[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 18835492] Novel mutations of the SPG11 gene in hereditary 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.
