PKD1 c.3312dup ;(p.V1105Rfs*5)

Variant ID: 16-2161855-C-CG

NM_001009944.2(PKD1):c.3312dup;(p.V1105Rfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Bmc Nephrology
Reiterová, Jana J; Štekrová, Jitka J; Merta, Miroslav M; Kotlas, Jaroslav J; Elišáková, Veronika V; Lněnička, Petr P; Korabečná, Marie M; Kohoutová, Milada M; Tesař, Vladimír V
Publication Date: 2013-03-15

Variant appearance in text: PKD1: 3312dupC
PubMed Link: 23496908
Variant Present in the following documents:
  • Main text
  • 1471-2369-14-59.pdf
View BVdb publication page