KCNH2 c.370A>G ;(p.M124V)

Variant ID: 7-150656762-T-C

NM_000238.3(KCNH2):c.370A>G;(p.M124V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.

Journal Of Molecular And Cellular Cardiology
Stump, Matthew R MR; Gong, Qiuming Q; Packer, Jonathan D JD; Zhou, Zhengfeng Z
Publication Date: 2012-11

Variant appearance in text: LQT2: M124V
PubMed Link: 22964610
Variant Present in the following documents:
  • Main text
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