KCNH2 c.2167T>C ;(p.C723R)

Variant ID: 7-150647487-A-G

NM_000238.3(KCNH2):c.2167T>C;(p.C723R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Circulation. Cardiovascular Genetics
Giudicessi, John R JR; Kapplinger, Jamie D JD; Tester, David J DJ; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Ackerman, Michael J MJ
Publication Date: 2012-10-01

Variant appearance in text: KCNH2: C723R
PubMed Link: 22949429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: KCNH2: C723R
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
View BVdb publication page