KIT c.35del ;(p.C12Sfs*18)

Variant ID: 4-55524216-TG-T

NM_000222.2(KIT):c.35del;(p.C12Sfs*18)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

American Journal Of Human Genetics
Zazo Seco, Celia C; Serrão de Castro, Luciana L; van Nierop, Josephine W JW; Morín, Matías M; Jhangiani, Shalini S; Verver, Eva J J EJ; Schraders, Margit M; Maiwald, Nadine N; Wesdorp, Mieke M; Venselaar, Hanka H; Spruijt, Liesbeth L; Oostrik, Jaap J; Schoots, Jeroen J; , ; van Reeuwijk, Jeroen J; Lelieveld, Stefan H SH; Huygen, Patrick L M PL; Insenser, María M; Admiraal, Ronald J C RJ; Pennings, Ronald J E RJ; Hoefsloot, Lies H LH; Arias-Vásquez, Alejandro A; de Ligt, Joep J; Yntema, Helger G HG; Jansen, Joop H JH; Muzny, Donna M DM; Huls, Gerwin G; van Rossum, Michelle M MM; Lupski, James R JR; Moreno-Pelayo, Miguel Angel MA; Kunst, Henricus P M HP; Kremer, Hannie H
Publication Date: 2015-11-05

Variant appearance in text: KIT: 35delG
PubMed Link: 26522471
Variant Present in the following documents:
  • Main text
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