IFT27
HGNC:18626 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
15Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in IFT27 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Bardet-Biedl syndrome | — | 2 | 2 |
| obesity | HP:0001513 | 1 | 1 |
Linked variants
Variants normalized to IFT27| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.94C>T | c.94C>T | 1 | 1 |
| p.Gln32Ter | p.Gln32Ter | 1 | 1 |
| c.160A>T | c.160A>T | 1 | 1 |
| p.Lys54Ter | p.Lys54Ter | 1 | 1 |
| c.720C>A | c.720C>A | 1 | 1 |
| p.Cys240Ter | p.Cys240Ter | 1 | 1 |
| c.505A>T | c.505A>T | 1 | 1 |
| p.Lys169Ter | p.Lys169Ter | 1 | 1 |
| c.775delA | c.775delA | 1 | 1 |
| c.1339G>A | c.1339G>A | 1 | 1 |
| p.Ala447Thr | p.Ala447Thr | 1 | 1 |
| c.951+1G>A | c.951+1G>A | 1 | 1 |
| c.119C>G | c.119C>G | 1 | 1 |
| p.Ser40* | p.Ser40* | 1 | 1 |
| c.196delA | c.196delA | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 1 |
| Not specified | — | 10 | 1 |