KCNQ1 c.733_734del ;(p.G245Rfs*39)

Variant ID: 11-2593290-AGG-A

NM_000218.2(KCNQ1):c.733_734del;(p.G245Rfs*39)

This variant was identified in 3 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: 733_734delGG
PubMed Link: 36140355
Variant Present in the following documents:
  • biomedicines-10-02254.pdf
View BVdb publication page



Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Human Genetics
Bahena, Paulina P; Daftarian, Narsis N; Maroofian, Reza R; Linares, Paola P; Villalobos, Daniel D; Mirrahimi, Mehraban M; Rad, Aboulfazl A; Doll, Julia J; Hofrichter, Michaela A H MAH; Koparir, Asuman A; Röder, Tabea T; Han, Seungbin S; Sabbaghi, Hamideh H; Ahmadieh, Hamid H; Behboudi, Hassan H; Villanueva-Mendoza, Cristina C; Cortés-Gonzalez, Vianney V; Zamora-Ortiz, Rocio R; Kohl, Susanne S; Kuehlewein, Laura L; Darvish, Hossein H; Alehabib, Elham E; Arenas-Sordo, Maria de la Luz ML; Suri, Fatemeh F; Vona, Barbara B; Haaf, Thomas T
Publication Date: 2022-04

Variant appearance in text: KCNQ1: 733_734del; Gly245Argfs*39
PubMed Link: 34148116
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2303.pdf
  • 439_2021_2303_MOESM1_ESM.pdf
View BVdb publication page



Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Iranian Biomedical Journal
Amirian, Azam A; Zafari, Zahra Z; Karimipoor, Morteza M; Kordafshari, Alireza A; Dalili, Mohammad M; Saber, Siamak S; Farjam Fazelifar, Amir A; Zeinali, Sirous S
Publication Date: 2019-05

Variant appearance in text: KCNQ1: 733_734delGG; G245Rfs*39
PubMed Link: 30797226
Variant Present in the following documents:
  • Main text
  • IBJ-23-228.pdf
View BVdb publication page