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PRRT2 c.688_689delinsCA ;(p.R230Q)
Variant ID: 16-29825063-AG-CA
NM_145239.2(
PRRT2
):c.688_689delinsCA;(p.R230Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.
Frontiers In Cardiovascular Medicine
Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z
Publication Date: 2021
Variant appearance in text: PKC: R230Q
PubMed Link:
34422936
Variant Present in the following documents:
Main text
fcvm-08-714844.pdf
View BVdb publication page