CFTR c.54C>A ;(p.S18R)

Variant ID: 7-117144307-C-A

NM_000492.3(CFTR):c.54C>A;(p.S18R)

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:

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Krasovskiy, Stanislav A SA; Amelina, Elena L EL; Kondratyeva, Elena I EI; Marakhonov, Andrey V AV; Vasilyeva, Tatyana A TA; Voronkova, Anna Y AY; Sherman, Victoria D VD; Ginter, Evgeny K EK; Kutsev, Sergey I SI; Zinchenko, Rena A RA
Publication Date: 2020-09-27

Variant appearance in text: CFTR: Ser18Arg
PubMed Link: 32992607
Variant Present in the following documents:
  • Main text
  • genes-11-01137.pdf
View BVdb publication page