KCNH2 c.3019dup ;(p.R1007Pfs*112)

Variant ID: 7-150644548-C-CG

NM_000238.3(KCNH2):c.3019dup;(p.R1007Pfs*112)

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:

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2021-10-25

Variant appearance in text: KCNH2: 3019dup; Arg1007fs
PubMed Link: 34697415
Variant Present in the following documents:
  • 41431_2021_964_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page


Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2022-02

Variant appearance in text: KCNH2: 3019dup; Arg1007fs
PubMed Link: 34697415
Variant Present in the following documents:
  • 41431_2021_964_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page