KCNH2 c.3234C>A ;(p.Y1078*)

Variant ID: 7-150644061-G-T

NM_000238.3(KCNH2):c.3234C>A;(p.Y1078*)

This variant was identified in 1 publication

View GRCh38 version.




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: Y1078*
PubMed Link: 24530480
Variant Present in the following documents:
  • Main text
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