BBS7 c.1135T>G ;(p.F379V)

Variant ID: 4-122766754-A-C

NM_176824.2(BBS7):c.1135T>G;(p.F379V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Nature Genetics
Goh, Gerald G; Scholl, Ute I UI; Healy, James M JM; Choi, Murim M; Prasad, Manju L ML; Nelson-Williams, Carol C; Kunstman, John W JW; Kuntsman, John W JW; Korah, Reju R; Suttorp, Anna-Carinna AC; Dietrich, Dimo D; Haase, Matthias M; Willenberg, Holger S HS; Stålberg, Peter P; Hellman, Per P; Akerström, Göran G; Björklund, Peyman P; Carling, Tobias T; Lifton, Richard P RP
Publication Date: 2014-06

Variant appearance in text: BBS7: F379V
PubMed Link: 24747643
Variant Present in the following documents:
  • NIHMS577752-supplement-1.pdf
View BVdb publication page