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KCNH2 c.190_192delinsATG ;(p.C64M)
Variant ID: 7-150671914-GCA-CAT
NM_000238.3(
KCNH2
):c.190_192delinsATG;(p.C64M)
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:
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ
Publication Date: 2020-10
Variant appearance in text: Kv11.1: C64M
PubMed Link:
32475984
Variant Present in the following documents:
Main text
nihms-1603463.pdf
View BVdb publication page