CFTR c.1633G>A ;(p.G545R)

Variant ID: 7-117227841-G-A

NM_000492.3(CFTR):c.1633G>A;(p.G545R)

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:

The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01

Variant appearance in text: CFTR: 1633G>A
PubMed Link: 32357917
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_958.pdf
View BVdb publication page