PKD1 c.7428C>G ;(p.C2476W)

Variant ID: 16-2156460-G-C

NM_001009944.2(PKD1):c.7428C>G;(p.C2476W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Kidney International Reports
Al Alawi, Intisar I; Al Salmi, Issa I; Al Rahbi, Fatma F; Al Riyami, Mohamed M; Al Kalbani, Naifain N; Al Ghaithi, Badria B; Al Mawali, Adhra A; Sayer, John A JA
Publication Date: 2019-12

Variant appearance in text: PKD1: 7428C>G; Cys2476Trp
PubMed Link: 31844813
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page