c.379C>G
c.379C>G · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
0Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| ATP8B1 | HGNC:3706 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publicationsNo retained phenotype associations.
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2017Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗