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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