PKD1 c.8421dup ;(p.I2808Hfs*14)

Variant ID: 16-2153636-T-TG

NM_001009944.2(PKD1):c.8421dup;(p.I2808Hfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E
Publication Date: 2014-09

Variant appearance in text: PKD1: 8421_8422insC; Ile2808fs
PubMed Link: 25333066
Variant Present in the following documents:
  • Main text
  • mgg30002-0412.pdf
View BVdb publication page