KCNH2 c.1057A>T ;(p.T353S)

Variant ID: 7-150654450-T-A

NM_000238.3(KCNH2):c.1057A>T;(p.T353S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KCNH2: T353S; rs760372805
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: KCNH2: T353S
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 1
View BVdb publication page



Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

Indian Pacing And Electrophysiology Journal
Rangaraju, Advithi A; Krishnan, Shuba S; Aparna, G G; Sankaran, Satish S; Mannan, Ashraf U AU; Rao, B Hygriv BH
Publication Date: 2018

Variant appearance in text: KCNH2: Thr353Ser
PubMed Link: 29396286
Variant Present in the following documents:
  • Main text
View BVdb publication page