CFTR c.2423_2424dup ;(p.S809Ifs*13)

Variant ID: 7-117232637-G-GAT

NM_000492.3(CFTR):c.2423_2424dup;(p.S809Ifs*13)

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: rs387906359
PubMed Link: 30996306
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42404.pdf
View BVdb publication page