PKD1 c.1256G>T ;(p.C419F)

Variant ID: 16-2167619-C-A

NM_001009944.2(PKD1):c.1256G>T;(p.C419F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

American Journal Of Human Genetics
Porath, Binu B; Gainullin, Vladimir G VG; Cornec-Le Gall, Emilie E; Dillinger, Elizabeth K EK; Heyer, Christina M CM; Hopp, Katharina K; Edwards, Marie E ME; Madsen, Charles D CD; Mauritz, Sarah R SR; Banks, Carly J CJ; Baheti, Saurabh S; Reddy, Bharathi B; Herrero, José Ignacio JI; Bañales, Jesús M JM; Hogan, Marie C MC; Tasic, Velibor V; Watnick, Terry J TJ; Chapman, Arlene B AB; Vigneau, Cécile C; Lavainne, Frédéric F; Audrézet, Marie-Pierre MP; Ferec, Claude C; Le Meur, Yannick Y; Torres, Vicente E VE; , ; , ; Harris, Peter C PC
Publication Date: 2016-06-02

Variant appearance in text: PKD1: 1256G>T
PubMed Link: 27259053
Variant Present in the following documents:
  • Main text
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