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.




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