KCNH2 c.88A>T ;(p.I30F)

Variant ID: 7-150672018-T-A

NM_000238.3(KCNH2):c.88A>T;(p.I30F)

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:

Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy.

Plos One
Ramos-Maqueda, Javier J; Bermúdez-Jiménez, Francisco F; Ruiz, Rosa Macías RM; Ramos, Mercedes Cabrera MC; Lerma, Manuel Molina MM; Millán, Pablo Sánchez PS; López, Miguel Álvarez MÁ; Sánchez, Luis Tercedor LT; Jiménez-Jáimez, Juan J
Publication Date: 2020

Variant appearance in text: KCNH2: I30F
PubMed Link: 32298319
Variant Present in the following documents:
  • Main text
View BVdb publication page