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PKD1 c.418del ;(p.A140Rfs*150)
Variant ID: 16-2168787-GC-G
NM_001009944.2(
PKD1
):c.418del;(p.A140Rfs*150)
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:
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Clinical Genetics
Oh, Jiyoung J; Shin, Jae Il JI; Lee, Keumwha K; Lee, CheolHo C; Ko, Younhee Y; Lee, Jin-Sung JS
Publication Date: 2021-02
Variant appearance in text: PKD1: 417delG
PubMed Link:
33095447
Variant Present in the following documents:
CGE-99-236.pdf
View BVdb publication page