p.H166R
p.H166R · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
3Associated gene records
2Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 1 | 1 |
| hepatocellular carcinoma | — | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2017Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.European journal of medical geneticsPubMed ↗