PKD1 c.644dup ;(p.S216Lfs*45)

Variant ID: 16-2168348-G-GA

NM_001009944.2(PKD1):c.644dup;(p.S216Lfs*45)

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:

PKD1 mono-allelic knockout is sufficient to trigger renal cystogenesis in a mini-pig model.

International Journal Of Biological Sciences
He, Jin J; Li, Qiuyan Q; Fang, Suyun S; Guo, Ying Y; Liu, Tongxin T; Ye, Jianhua J; Yu, Zhengquan Z; Zhang, Ran R; Zhao, Yaofeng Y; Hu, Xiaoxiang X; Bai, Xueyuan X; Chen, Xiangmei X; Li, Ning N
Publication Date: 2015

Variant appearance in text: PKD1: 642_643insT
PubMed Link: 25798056
Variant Present in the following documents:
  • Main text
  • ijbsv11p0361.pdf
View BVdb publication page