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CFTR c.1546_1548delinsTGG ;(p.R516W)
Variant ID: 7-117199671-AGA-TGG
NM_000492.3(
CFTR
):c.1546_1548delinsTGG;(p.R516W)
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:
Small molecules restore the function of mutant CLC5 associated with Dent disease.
Journal Of Cellular And Molecular Medicine
Liu, Jingshu J; Sadeh, Tal T TT; Lippiat, Jonathan D JD; Thakker, Rajesh V RV; Black, Graeme C GC; Manson, Forbes F
Publication Date: 2021-01
Variant appearance in text: CFTR: R516W
PubMed Link:
33200471
Variant Present in the following documents:
Main text
JCMM-25-1319.pdf
View BVdb publication page