PKD1 c.1386_1387insC ;(p.S463Qfs*56)

Variant ID: 16-2167053-T-TG

NM_001009944.2(PKD1):c.1386_1387insC;(p.S463Qfs*56)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Kidney International
Hopp, Katharina K; Cornec-Le Gall, Emilie E; Senum, Sarah R SR; Te Paske, Iris B A W IBAW; Raj, Sonam S; Lavu, Sravanthi S; Baheti, Saurabh S; Edwards, Marie E ME; Madsen, Charles D CD; Heyer, Christina M CM; Ong, Albert C M ACM; Bae, Kyongtae T KT; Fatica, Richard R; Steinman, Theodore I TI; Chapman, Arlene B AB; Gitomer, Berenice B; Perrone, Ronald D RD; Rahbari-Oskoui, Frederic F FF; Torres, Vicente E VE; , ; Harris, Peter C PC
Publication Date: 2020-02

Variant appearance in text: N/A
PubMed Link: 31874800
Variant Present in the following documents:
View BVdb publication page