PKD1 c.3553G>A ;(p.G1185S)

Variant ID: 16-2161615-C-T

NM_001009944.2(PKD1):c.3553G>A;(p.G1185S)

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:

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.

F1000Research
Al Alawi, Intisar I; Al Riyami, Mohammed M; Barroso-Gil, Miguel M; Powell, Laura L; Olinger, Eric E; Al Salmi, Issa I; Sayer, John A JA
Publication Date: 2021

Variant appearance in text: PKD1: 3553G>A
PubMed Link: 34354814
Variant Present in the following documents:
  • Main text
  • f1000research-10-58306.pdf
View BVdb publication page