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PKD1 c.566C>G ;(p.S189*)
Variant ID: 16-2168427-G-C
NM_001009944.2(
PKD1
):c.566C>G;(p.S189*)
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:
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; BallarÃn, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E
Publication Date: 2014-09
Variant appearance in text: PKD1: 566C>G; Ser189*
PubMed Link:
25333066
Variant Present in the following documents:
Main text
mgg30002-0412.pdf
View BVdb publication page