KCNH2 c.73C>T ;(p.Q25*)

Variant ID: 7-150674929-G-A

NM_000238.3(KCNH2):c.73C>T;(p.Q25*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: KCNH2: 73C>T
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



Complex genetic background in a large family with Brugada syndrome.

Physiological Reports
Saber, Siamak S; Amarouch, Mohamed-Yassine MY; Fazelifar, Amir-Farjam AF; Haghjoo, Majid M; Emkanjoo, Zahra Z; Alizadeh, Abolfath A; Houshmand, Massoud M; Gavrilenko, Alexander V AV; Abriel, Hugues H; Zaklyazminskaya, Elena V EV
Publication Date: 2015-01-01

Variant appearance in text: KCNH2: 73C>T
PubMed Link: 25626866
Variant Present in the following documents:
  • Main text
  • phy2-3-e12256.pdf
View BVdb publication page



Long QT syndrome-associated mutations in intrauterine fetal death.

Jama
Crotti, Lia L; Tester, David J DJ; White, Wendy M WM; Bartos, Daniel C DC; Insolia, Roberto R; Besana, Alessandra A; Kunic, Jennifer D JD; Will, Melissa L ML; Velasco, Ellyn J EJ; Bair, Jennifer J JJ; Ghidoni, Alice A; Cetin, Irene I; Van Dyke, Daniel L DL; Wick, Myra J MJ; Brost, Brian B; Delisle, Brian P BP; Facchinetti, Fabio F; George, Alfred L AL; Schwartz, Peter J PJ; Ackerman, Michael J MJ
Publication Date: 2013-04-10

Variant appearance in text: LQT2: 73C>T
PubMed Link: 23571586
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of cardiac arrhythmias.

Heart (British Cardiac Society)
Wilde, Arthur A M AA; Bezzina, Connie R CR
Publication Date: 2005-10

Variant appearance in text: HERG: q25*
PubMed Link: 16162633
Variant Present in the following documents:
  • Main text
View BVdb publication page