PKD1 c.9053del ;(p.F3018Sfs*56)

Variant ID: 16-2152529-GA-G

NM_001009944.2(PKD1):c.9053del;(p.F3018Sfs*56)

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 novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report.

Experimental And Therapeutic Medicine
Meng, Jialin J; Xu, Yuchen Y; Shen, Xufeng X; Liang, Chaozhao C
Publication Date: 2019-01

Variant appearance in text: PKD1: 9053delT; Phe3018Serfs*56
PubMed Link: 30651829
Variant Present in the following documents:
  • Main text
View BVdb publication page