CCDC47
HGNC:24856 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
4Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in CCDC47 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to CCDC47| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.567_570del | c.567_570del | 1 | 1 |
| c.1327C>T | c.1327C>T | 1 | 1 |
| p.Arg443* | p.Arg443* | 1 | 1 |
| c.422dup | c.422dup | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | 11 | 1 |
Supporting publications
2 records- 2025CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.American journal of medical genetics. Part APubMed ↗
- 2024Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.American journal of human geneticsPubMed ↗