KCNH5 c.34C>T ;(p.Q12*)

Variant ID: 14-63511871-G-A

NM_139318.4(KCNH5):c.34C>T;(p.Q12*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

Clinical & Translational Immunology
Ameratunga, Rohan R; Koopmans, Wikke W; Woon, See-Tarn ST; Leung, Euphemia E; Lehnert, Klaus K; Slade, Charlotte A CA; Tempany, Jessica C JC; Enders, Anselm A; Steele, Richard R; Browett, Peter P; Hodgkin, Philip D PD; Bryant, Vanessa L VL
Publication Date: 2017-10

Variant appearance in text: KCNH5: 34C>T
PubMed Link: 29114388
Variant Present in the following documents:
  • cti201741x3.pdf
View BVdb publication page