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PKD1 c.11820_11845del ;(p.L3941Tfs*11)
Variant ID: 16-2141043-GCCGTGGCCGCCGTCAGCGCCACCAGC-G
NM_001009944.2(
PKD1
):c.11820_11845del;(p.L3941Tfs*11)
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:
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
Bmc Medical Genetics
Vouk, Katja K; Strmecki, Lana L; Stekrova, Jitka J; Reiterova, Jana J; Bidovec, Matjaz M; Hudler, Petra P; Kenig, Anton A; Jereb, Simona S; Zupanic-Pajnic, Irena I; Balazic, Joze J; Haarpaintner, Guido G; Leskovar, Bostjan B; Adamlje, Anton A; Skoflic, Antun A; Dovc, Reina R; Hojs, Radovan R; Komel, Radovan R
Publication Date: 2006-01-23
Variant appearance in text: PKD1: 11820_11845del
PubMed Link:
16430766
Variant Present in the following documents:
Main text
1471-2350-7-6.pdf
View BVdb publication page