AKAP13 c.8036A>T ;(p.Q2679L)

Variant ID: 15-86284704-A-T

NM_007200.4(AKAP13):c.8036A>T;(p.Q2679L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Eisenberger, Tobias T; Di Donato, Nataliya N; Decker, Christian C; Delle Vedove, Andrea A; Neuhaus, Christine C; Nürnberg, Gudrun G; Toliat, Mohammad M; Nürnberg, Peter P; Mürbe, Dirk D; Bolz, Hanno Jörn HJ
Publication Date: 2018-06

Variant appearance in text: rs759291200
PubMed Link: 29309402
Variant Present in the following documents:
  • gim2017155x6.pdf
View BVdb publication page