PKD1 c.9148dup ;(p.A3050Gfs*19)

Variant ID: 16-2152434-G-GC

NM_001009944.2(PKD1):c.9148dup;(p.A3050Gfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18

Variant appearance in text: PKD1: 9147_9148insG; Ala3050fs
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page