HP c.191G>C ;(p.G64A)

Variant ID: 16-72091291-G-C

NM_005143.3(HP):c.191G>C;(p.G64A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Human Mutation
Chiorean, Andreea A; Farncombe, Kirsten M KM; Delong, Sean S; Andric, Veronica V; Ansar, Safa S; Chan, Clarissa C; Clark, Kaitlin K; Danos, Arpad M AM; Gao, Yizhuo Y; Giles, Rachel H RH; Goldenberg, Anna A; Jani, Payal P; Krysiak, Kilannin K; Kujan, Lynzey L; Macpherson, Samantha S; Maher, Eamonn R ER; McCoy, Liam G LG; Salama, Yasser Y; Saliba, Jason J; Sheta, Lana L; Griffith, Malachi M; Griffith, Obi L OL; Erdman, Lauren L; Ramani, Arun A; Kim, Raymond H RH
Publication Date: 2022-09

Variant appearance in text: HP: 191G>C
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page



Variations in cag pathogenicity island genes of Helicobacter pylori from Latin American groups may influence neoplastic progression to gastric cancer.

Scientific Reports
Rizzato, Cosmeri C; Torres, Javier J; Obazee, Ofure O; Camorlinga-Ponce, Margarita M; Trujillo, Esperanza E; Stein, Angelika A; Mendez-Tenorio, Alfonso A; Bravo, Maria Mercedes MM; Canzian, Federico F; Kato, Ikuko I
Publication Date: 2020-04-16

Variant appearance in text: HP: G64A
PubMed Link: 32300197
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_63463.pdf
View BVdb publication page