PKD1 c.2820_2826del ;(p.S940Rfs*9)

Variant ID: 16-2164197-CCTCGGGG-C

NM_001009944.2(PKD1):c.2820_2826del;(p.S940Rfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genomics Integration Into Nephrology Practice.

Kidney Medicine
Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC
Publication Date: 2021

Variant appearance in text: PKD1: 2820_2826del; Ser940Argfs
PubMed Link: 34746741
Variant Present in the following documents:
  • Main text
  • mmc5.xlsx, sheet 1
View BVdb publication page