PKD1 c.11863dup ;(p.Q3955Pfs*6)

Variant ID: 16-2141024-T-TG

NM_001009944.2(PKD1):c.11863dup;(p.Q3955Pfs*6)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Scientific Reports
Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC
Publication Date: 2019-03-11

Variant appearance in text: PKD1: 11863dupC; Gln3955fs*6
PubMed Link: 30858458
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40761.pdf
View BVdb publication page