JPH1
HGNC:14201 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
5Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in JPH1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| congenital myopathy | — | 1 | 1 |
| cleft lip and palate | — | 1 | 1 |
Linked variants
Variants normalized to JPH1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.354C>A | c.354C>A | 1 | 1 |
| p.Tyr118* | p.Tyr118* | 1 | 1 |
| c.373delG | c.373delG | 1 | 1 |
| c.1738delC | c.1738delC | 1 | 1 |
| c.1510delG | c.1510delG | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 1 | 1 |
Supporting publications
1 records- 2024Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.Journal of medical geneticsPubMed ↗