KCNH2 c.569C>T ;(p.A190V)

Variant ID: 7-150655494-G-A

NM_000238.3(KCNH2):c.569C>T;(p.A190V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Scientific Reports
Quaio, Caio Robledo D 'Angioli Costa CRD'C; Ceroni, Jose Ricardo Magliocco JRM; Cervato, Murilo Castro MC; Thurow, Helena Strelow HS; Moreira, Caroline Monaco CM; Trindade, Ana Carolina Gomes ACG; Furuzawa, Cintia Reys CR; de Souza, Rafaela Rogerio Floriano RRF; Perazzio, Sandro Felix SF; Dutra, Aurelio Pimenta AP; Chung, Christine Hsiaoyun CH; Kim, Chong Ae CA
Publication Date: 2022-05-11

Variant appearance in text: KCNH2: 569C>T; rs903749476
PubMed Link: 35546177
Variant Present in the following documents:
  • 41598_2022_11932_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page