KCNH2 c.117C>A ;(p.C39*)

Variant ID: 7-150671989-G-T

NM_000238.3(KCNH2):c.117C>A;(p.C39*)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.

Gene
Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z
Publication Date: 2014-04-15

Variant appearance in text: LQT2: C39*
PubMed Link: 24530480
Variant Present in the following documents:
  • Main text
View BVdb publication page


LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.

American Journal Of Physiology. Heart And Circulatory Physiology
Stump, Matthew R MR; Gong, Qiuming Q; Zhou, Zhengfeng Z
Publication Date: 2013-11-01

Variant appearance in text: LQT2: C39X
PubMed Link: 23997099
Variant Present in the following documents:
  • Main text
View BVdb publication page