PKD1 c.12375G>A ;(p.Q4125=)

Variant ID: 16-2140355-C-T

NM_001009944.2(PKD1):c.12375G>A;(p.Q4125=)

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: 12375G>A
PubMed Link: 16430766
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-6.pdf
View BVdb publication page