PKD1 c.7760G>A ;(p.W2587*)

Variant ID: 16-2155969-C-T

NM_001009944.2(PKD1):c.7760G>A;(p.W2587*)

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:

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Pediatric Diabetes
Sztromwasser, Paweł P; Michalak, Arkadiusz A; Małachowska, Beata B; Młudzik, Paulina P; Antosik, Karolina K; Hogendorf, Anna A; Zmysłowska, Agnieszka A; Borowiec, Maciej M; Młynarski, Wojciech W; Fendler, Wojciech W
Publication Date: 2020-05

Variant appearance in text: PKD1: 7760G>A; Trp2587Ter
PubMed Link: 31825128
Variant Present in the following documents:
  • Main text
  • PEDI-21-422.pdf
  • PEDI-21-422-s003.pdf
View BVdb publication page