KCNQ1 c.443del ;(p.Y148Lfs*89)

Variant ID: 11-2549214-TA-T

NM_000218.2(KCNQ1):c.443del;(p.Y148Lfs*89)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Biomedicines
Homma, Kazuaki K
Publication Date: 2022-09-12

Variant appearance in text: Kv7.1: 443delA
PubMed Link: 36140355
Variant Present in the following documents:
  • biomedicines-10-02254.pdf
View BVdb publication page



Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing And Electrophysiology Journal
Vyas, Bijal B; Puri, Ratna D RD; Namboodiri, Narayanan N; Saxena, Renu R; Nair, Mohan M; Balakrishnan, Prahlad P; Jayakrishnan, M P MP; Udyavar, Ameya A; Kishore, Ravi R; Verma, Ishwar C IC
Publication Date: 2016

Variant appearance in text: LQT1: Y148Lfs*89
PubMed Link: 27485560
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page