PKD1 c.12142G>T ;(p.V4048L)

Variant ID: 16-2140588-C-A

NM_001009944.2(PKD1):c.12142G>T;(p.V4048L)

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:

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06

Variant appearance in text: PKD1: 12142G>T; Val4048Leu
PubMed Link: 31056860
Variant Present in the following documents:
  • Main text
  • MGG3-7-e720.pdf
View BVdb publication page