rs80338869
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a spastic paraplegia 11 mutation |
| (C;C) | 0 | common in clinvar |
| (C;T) | 0 | Benign variant according to ClinVar |
| Make rs80338869(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 44564675 |
| Gene | SPG11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338869 |
| dbSNP (classic) | rs80338869 |
| ClinGen | rs80338869 |
| ebi | rs80338869 |
| HLI | rs80338869 |
| Exac | rs80338869 |
| Gnomad | rs80338869 |
| Varsome | rs80338869 |
| LitVar | rs80338869 |
| Map | rs80338869 |
| PheGenI | rs80338869 |
| Biobank | rs80338869 |
| 1000 genomes | rs80338869 |
| hgdp | rs80338869 |
| ensembl | rs80338869 |
| geneview | rs80338869 |
| scholar | rs80338869 |
| rs80338869 | |
| pharmgkb | rs80338869 |
| gwascentral | rs80338869 |
| openSNP | rs80338869 |
| 23andMe | rs80338869 |
| SNPshot | rs80338869 |
| SNPdbe | rs80338869 |
| MSV3d | rs80338869 |
| GWAS Ctlg | rs80338869 |
| GMAF | 0.01286 |
| Max Magnitude | 3 |
aka c.7023C>A (p.Tyr2341Ter or Y2341X) and also c.7023C>T (p.Tyr2341=); the former is considered pathogenic in ClinVar, while the latter is considered benign
| ClinVar | |
|---|---|
| Risk | rs80338869(A;A) rs80338869(T;T) |
| Alt | rs80338869(A;A) rs80338869(T;T) |
| Reference | Rs80338869(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 11 not specified |
| Variation | info |
| Gene | SPG11 |
| CLNDBN | Spastic paraplegia 11, autosomal recessive not specified |
| Reversed | 1 |
| HGVS | NC_000015.9:g.44856873G>A; NC_000015.9:g.44856873G>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034258.3, RCV000421146.1, RCV000034257.2, |
[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
