PKD1 c.2473_2474del ;(p.R825Gfs*46)

Variant ID: 16-2164549-CCG-C

NM_001009944.2(PKD1):c.2473_2474del;(p.R825Gfs*46)

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:

scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data.

Bmc Bioinformatics
Yan, Zhiqiang Z; Zhu, Xiaohui X; Wang, Yuqian Y; Nie, Yanli Y; Guan, Shuo S; Kuo, Ying Y; Chang, Di D; Li, Rong R; Qiao, Jie J; Yan, Liying L
Publication Date: 2020-02-01

Variant appearance in text: PKD1: 2473_2474delCG
PubMed Link: 32007105
Variant Present in the following documents:
  • Main text
  • 12859_2020_Article_3381.pdf
View BVdb publication page