rs121908613
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a spastic paraplegia mutation |
| (T;T) | 0 | common in clinvar |
| Make rs121908613(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 64615716 |
| Gene | CYP7B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908613 |
| dbSNP (classic) | rs121908613 |
| ClinGen | rs121908613 |
| ebi | rs121908613 |
| HLI | rs121908613 |
| Exac | rs121908613 |
| Gnomad | rs121908613 |
| Varsome | rs121908613 |
| LitVar | rs121908613 |
| Map | rs121908613 |
| PheGenI | rs121908613 |
| Biobank | rs121908613 |
| 1000 genomes | rs121908613 |
| hgdp | rs121908613 |
| ensembl | rs121908613 |
| geneview | rs121908613 |
| scholar | rs121908613 |
| rs121908613 | |
| pharmgkb | rs121908613 |
| gwascentral | rs121908613 |
| openSNP | rs121908613 |
| 23andMe | rs121908613 |
| SNPshot | rs121908613 |
| SNPdbe | rs121908613 |
| MSV3d | rs121908613 |
| GWAS Ctlg | rs121908613 |
| Max Magnitude | 3 |
aka c. 825T>A, p.(Tyr275*)
[PMID 28832565
] Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegia; implies the minor allele is a recessive mutation.
| ClinVar | |
|---|---|
| Risk | rs121908613(A;A) rs121908613(C;C) |
| Alt | rs121908613(A;A) rs121908613(C;C) |
| Reference | Rs121908613(T;T) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 5A not provided |
| Variation | info |
| Gene | CYP7B1 |
| CLNDBN | Spastic paraplegia 5A not provided |
| Reversed | 1 |
| HGVS | NC_000008.10:g.65528273A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006479.3, RCV000260437.1, |
