PKD1 c.12261T>A ;(p.C4087*)

Variant ID: 16-2140469-A-T

NM_001009944.2(PKD1):c.12261T>A;(p.C4087*)

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:

Polycystic liver diseases: advanced insights into the molecular mechanisms.

Nature Reviews. Gastroenterology & Hepatology
Perugorria, Maria J MJ; Masyuk, Tatyana V TV; Marin, Jose J JJ; Marzioni, Marco M; Bujanda, Luis L; LaRusso, Nicholas F NF; Banales, Jesus M JM
Publication Date: 2014-12

Variant appearance in text: PKD1: 12261T>A; Cys4087Ter
PubMed Link: 25266109
Variant Present in the following documents:
  • Main text
View BVdb publication page