p.Gln336Arg
p.Gln336Arg · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
4Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| EPG5 | HGNC:29331 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 50 | 1 | 1 |
Supporting publications
1 records- 2016EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Brain : a journal of neurologyPubMed ↗