KCNH2 c.446G>T ;(p.G149V)

Variant ID: 7-150656686-C-A

NM_000238.3(KCNH2):c.446G>T;(p.G149V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.

Frontiers In Cardiovascular Medicine
Girolami, Francesca F; Spinelli, Valentina V; Maurizi, Niccolò N; Focardi, Martina M; Nesi, Gabriella G; Maio, Vincenza V; Grifoni, Rossella R; Albora, Giuseppe G; Bertaccini, Bruno B; Targetti, Mattia M; Coppini, Raffaele R; Favilli, Silvia S; Olivotto, Iacopo I; Cerbai, Elisabetta E
Publication Date: 2022

Variant appearance in text: KCNH2: 446G>T
PubMed Link: 36588553
Variant Present in the following documents:
  • fcvm-09-1080608.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs199472865
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs199472865
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page