PKD1 c.4242G>A ;(p.W1414*)

Variant ID: 16-2160926-C-T

NM_001009944.2(PKD1):c.4242G>A;(p.W1414*)

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:

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
Bitarafan, Fatemeh F; Garshasbi, Masoud M
Publication Date: 2019

Variant appearance in text: PKD1: Trp1414Ter
PubMed Link: 31160911
Variant Present in the following documents:
  • Main text
  • JRMS-24-44.pdf
View BVdb publication page