PKD1 c.5086C>T ;(p.Q1696*)

Variant ID: 16-2160082-G-A

NM_001009944.2(PKD1):c.5086C>T;(p.Q1696*)

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:

Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.

American Journal Of Translational Research
Wang, Hanlu H; Dai, Sen S; Zhang, Jianhui J; Li, Yi Y; Gan, Yumian Y; Lu, Tao T; Zhu, Yaobin Y; Wu, Jiabin J; Lin, Ning N; Tang, Faqiang F; Luo, Jiewei J
Publication Date: 2020

Variant appearance in text: PKD1: 5086C>T; Gln1696Ter
PubMed Link: 33437386
Variant Present in the following documents:
  • Main text
View BVdb publication page