PKD1 c.882C>G ;(p.I294M)

Variant ID: 16-2168111-G-C

NM_001009944.2(PKD1):c.882C>G;(p.I294M)

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:

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Journal Of The American Society Of Nephrology : Jasn
Vujic, Mihailo M; Heyer, Christina M CM; Ars, Elisabet E; Hopp, Katharina K; Markoff, Arseni A; Orndal, Charlotte C; Rudenhed, Bengt B; Nasr, Samih H SH; Torres, Vicente E VE; Torra, Roser R; Bogdanova, Nadja N; Harris, Peter C PC
Publication Date: 2010-07

Variant appearance in text: PKD1: I294M
PubMed Link: 20558538
Variant Present in the following documents:
  • Main text
View BVdb publication page