KCNH2 c.1236G>A ;(p.W412*)

Variant ID: 7-150649834-C-T

NM_000238.3(KCNH2):c.1236G>A;(p.W412*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene.

International Journal Of Molecular Medicine
Yu, Haiyun H; Meng, Yanhai Y; Zhang, Shuhong S; Tian, Chen C; Wu, Fang F; Li, Ning N; Li, Qiuyang Q; Jin, Yulan Y; Pu, Jielin J
Publication Date: 2019-12

Variant appearance in text: HERG: W412X
PubMed Link: 31573043
Variant Present in the following documents:
  • Main text
  • ijmm-44-06-2037.pdf
View BVdb publication page