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CFTR c.1646G>C ;(p.S549T)
Variant ID: 7-117227854-G-C
NM_000492.3(
CFTR
):c.1646G>C;(p.S549T)
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:
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Scientific Reports
Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL
Publication Date: 2019-04-17
Variant appearance in text: CFTR: S549T
PubMed Link:
30996306
Variant Present in the following documents:
Main text
41598_2019_Article_42404.pdf
View BVdb publication page