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PKD1 c.4880_4883del ;(p.Y1627Sfs*5)
Variant ID: 16-2160284-GACAT-G
NM_001009944.2(
PKD1
):c.4880_4883del;(p.Y1627Sfs*5)
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:
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Journal Of The American Society Of Nephrology : Jasn
Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2018-01
Variant appearance in text: PKD1: 4880_4883delATGT; Tyr1627fs
PubMed Link:
29038287
Variant Present in the following documents:
Main text
View BVdb publication page