HP c.305del ;(p.Y102Lfs*26)

Variant ID: 16-72092192-TA-T

NM_005143.3(HP):c.305del;(p.Y102Lfs*26)

This variant was identified in 1 publication

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: 305del
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page