CFTR c.1551C>G ;(p.Y517*)

Variant ID: 7-117199676-C-G

NM_000492.3(CFTR):c.1551C>G;(p.Y517*)

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:

Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report.

Bmc Pediatrics
Shum, Bennett O V BOV; Bennett, Glenn G; Navilebasappa, Akash A; Kumar, R Kishore RK
Publication Date: 2021-03-31

Variant appearance in text: CFTR: Tyr517*
PubMed Link: 33789612
Variant Present in the following documents:
  • 12887_2021_Article_2609.pdf
View BVdb publication page