PKD1 c.12060C>A ;(p.C4020*)

Variant ID: 16-2140753-G-T

NM_001009944.2(PKD1):c.12060C>A;(p.C4020*)

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:

Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Clinical Genetics
Oh, Jiyoung J; Shin, Jae Il JI; Lee, Keumwha K; Lee, CheolHo C; Ko, Younhee Y; Lee, Jin-Sung JS
Publication Date: 2021-02

Variant appearance in text: PKD1: 12060C>A
PubMed Link: 33095447
Variant Present in the following documents:
  • Main text
  • CGE-99-236.pdf
View BVdb publication page