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KCNH5 c.1033_1035delinsTGG ;(p.G345W)
Variant ID: 14-63417185-TCC-CCA
NM_139318.4(
KCNH5
):c.1033_1035delinsTGG;(p.G345W)
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:
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: KCNH5: Gly345Trp
PubMed Link:
33262484
Variant Present in the following documents:
Main text
View BVdb publication page