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.




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