PKD1 c.5814dup ;(p.S1939Qfs*51)

Variant ID: 16-2159353-T-TG

NM_001009944.2(PKD1):c.5814dup;(p.S1939Qfs*51)

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:

The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

Current Hypertension Reviews
Rossetti, Sandro S; Harris, Peter C PC
Publication Date: 2013-02

Variant appearance in text: PKD1: 5813_5814insC
PubMed Link: 23971643
Variant Present in the following documents:
  • Main text
View BVdb publication page