rs1061517
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a mitochondrial complex deficiency mutation |
| (A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
| (A;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| (G;G) | 0 | Observed in a family trio, seems harmless (but has been published as associated with Leigh syndrome) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 218356 |
| Gene | CCDC127, SDHA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1061517 |
| dbSNP (classic) | rs1061517 |
| ClinGen | rs1061517 |
| ebi | rs1061517 |
| HLI | rs1061517 |
| Exac | rs1061517 |
| Gnomad | rs1061517 |
| Varsome | rs1061517 |
| LitVar | rs1061517 |
| Map | rs1061517 |
| PheGenI | rs1061517 |
| Biobank | rs1061517 |
| 1000 genomes | rs1061517 |
| hgdp | rs1061517 |
| ensembl | rs1061517 |
| geneview | rs1061517 |
| scholar | rs1061517 |
| rs1061517 | |
| pharmgkb | rs1061517 |
| gwascentral | rs1061517 |
| openSNP | rs1061517 |
| 23andMe | rs1061517 |
| SNPshot | rs1061517 |
| SNPdbe | rs1061517 |
| MSV3d | rs1061517 |
| GWAS Ctlg | rs1061517 |
| Max Magnitude | 6.2 |
aka c.1A>T (p.Met1Leu), as well as c.1A>C (p.Met1Leu), as well as c.1A>G (p.Met1Val); according to ClinVar, the first is likely to be pathogenic for paragangliomas; the second is a mitochondrial II complex deficiency pathogenic mutation; and the third is both.
| ClinVar | |
|---|---|
| Risk | rs1061517(C;C) Rs1061517(G;G) rs1061517(T;T) |
| Alt | rs1061517(C;C) Rs1061517(G;G) rs1061517(T;T) |
| Reference | Rs1061517(A;A) |
| Significance | Pathogenic |
| Disease | Mitochondrial complex II deficiency Paragangliomas 5 |
| Variation | info |
| Gene | CCDC127 SDHA |
| CLNDBN | Mitochondrial complex II deficiency Paragangliomas 5 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.218471A>C; NC_000005.9:g.218471A>G; NC_000005.9:g.218471A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009283.6, RCV000230468.2, RCV000410820.1, |
