ANO5 c.463G>A ;(p.E155K)

Variant ID: 11-22248947-G-A

NM_213599.2(ANO5):c.463G>A;(p.E155K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscular Disorders : Nmd
Savarese, Marco M; Di Fruscio, Giuseppina G; Tasca, Giorgio G; Ruggiero, Lucia L; Janssens, Sandra S; De Bleecker, Jan J; Delpech, Marc M; Musumeci, Olimpia O; Toscano, Antonio A; Angelini, Corrado C; Sacconi, Sabrina S; Santoro, Lucio L; Ricci, Enzo E; Claes, Kathleen K; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2015-07

Variant appearance in text: ANO5: 463G>A; E155K; rs377650308
PubMed Link: 25891276
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page