PKD1 c.5494G>A ;(p.G1832S)

Variant ID: 16-2159674-C-T

NM_001009944.2(PKD1):c.5494G>A;(p.G1832S)

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:

Congenital hepatic fibrosis with polycystic kidney disease: Two case reports.

Medicine
Jiang, Chang C; Zhou, Qiang Q; Jin, Meishan M; Niu, Junqi J; Gao, Yanhang Y
Publication Date: 2019-05

Variant appearance in text: PKD1: 5494G>A; Gly1832Ser
PubMed Link: 31096464
Variant Present in the following documents:
  • Main text
  • medi-98-e15600.pdf
View BVdb publication page