USH2A c.8726del ;(p.G2909Vfs*8)

Variant ID: 1-216040467-AC-A

NM_206933.2(USH2A):c.8726del;(p.G2909Vfs*8)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Plos Genetics
Bachmann-Gagescu, Ruxandra R; Dona, Margo M; Hetterschijt, Lisette L; Tonnaer, Edith E; Peters, Theo T; de Vrieze, Erik E; Mans, Dorus A DA; van Beersum, Sylvia E C SE; Phelps, Ian G IG; Arts, Heleen H HH; Keunen, Jan E JE; Ueffing, Marius M; Roepman, Ronald R; Boldt, Karsten K; Doherty, Dan D; Moens, Cecilia B CB; Neuhauss, Stephan C F SC; Kremer, Hannie H; van Wijk, Erwin E
Publication Date: 2015-10

Variant appearance in text: USH2A: 8726delG
PubMed Link: 26485645
Variant Present in the following documents:
  • Main text
  • pgen.1005575.pdf
View BVdb publication page