PKD1 c.6264dup ;(p.R2089Afs*19)

Variant ID: 16-2158903-G-GC

NM_001009944.2(PKD1):c.6264dup;(p.R2089Afs*19)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 6264dupG; Arg2089Alafs*19
PubMed Link: 31844813
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page