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KCNH2 c.1588C>T ;(p.L530=)
Variant ID: 7-150648893-G-A
NM_000238.3(
KCNH2
):c.1588C>T;(p.L530=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16
Variant appearance in text: LQT2: 1588C>T
PubMed Link:
26675252
Variant Present in the following documents:
Main text
View BVdb publication page
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25
Variant appearance in text: KCNH2: 1588C>T
PubMed Link:
23098067
Variant Present in the following documents:
1471-2261-12-95.pdf
View BVdb publication page