HP c.332G>A ;(p.C111Y)

Variant ID: 16-72092219-G-A

NM_005143.3(HP):c.332G>A;(p.C111Y)

This variant was identified in 4 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: 332G>A
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page



VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Cold Spring Harbor Molecular Case Studies
Lyon, Gholson J GJ; Marchi, Elaine E; Ekstein, Joseph J; Meiner, Vardiella V; Hirsch, Yoel Y; Scher, Sholem S; Yang, Edward E; De Vivo, Darryl C DC; Madrid, Ricardo R; Li, Quan Q; Wang, Kai K; Haworth, Andrea A; Chilton, Ilana I; Chung, Wendy K WK; Velinov, Milen M
Publication Date: 2019-12

Variant appearance in text: HP: C111Y
PubMed Link: 31387860
Variant Present in the following documents:
  • supp_mcs.a003715_Supplemental_Table_1.xlsx, sheet 1
View BVdb publication page



Immunochemical characterization on pathological oligomers of mutant Cu/Zn-superoxide dismutase in amyotrophic lateral sclerosis.

Molecular Neurodegeneration
Tokuda, Eiichi E; Anzai, Itsuki I; Nomura, Takao T; Toichi, Keisuke K; Watanabe, Masahiko M; Ohara, Shinji S; Watanabe, Seiji S; Yamanaka, Koji K; Morisaki, Yuta Y; Misawa, Hidemi H; Furukawa, Yoshiaki Y
Publication Date: 2017-01-05

Variant appearance in text: HP: C111Y
PubMed Link: 28057013
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_145.pdf
View BVdb publication page



Selective Expression of Osteopontin in ALS-resistant Motor Neurons is a Critical Determinant of Late Phase Neurodegeneration Mediated by Matrix Metalloproteinase-9.

Scientific Reports
Morisaki, Yuta Y; Niikura, Mamiko M; Watanabe, Mizuho M; Onishi, Kosuke K; Tanabe, Shogo S; Moriwaki, Yasuhiro Y; Okuda, Takashi T; Ohara, Shinji S; Murayama, Shigeo S; Takao, Masaki M; Uchida, Sae S; Yamanaka, Koji K; Misawa, Hidemi H
Publication Date: 2016-06-06

Variant appearance in text: HP: C111Y
PubMed Link: 27264390
Variant Present in the following documents:
  • Main text
  • srep27354.pdf
View BVdb publication page