PKD1 c.11173C>T ;(p.P3725S)

Variant ID: 16-2142577-G-A

NM_001009944.2(PKD1):c.11173C>T;(p.P3725S)

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:

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Reed, Berenice B; McFann, Kim K; Kimberling, William J WJ; Pei, York Y; Gabow, Patricia A PA; Christopher, Karen K; Petersen, Eric E; Kelleher, Catherine C; Fain, Pamela R PR; Johnson, Ann A; Schrier, Robert W RW
Publication Date: 2008-12

Variant appearance in text: PKD1: 11173C>T
PubMed Link: 18640754
Variant Present in the following documents:
  • Main text
View BVdb publication page