CFTR c.448A>G ;(p.M150V)

Variant ID: 7-117171127-A-G

NM_000492.3(CFTR):c.448A>G;(p.M150V)

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:

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Ramalho, Anabela S AS; Lewandowska, Marzena A MA; Farinha, Carlos M CM; Mendes, Filipa F; Gonçalves, Juan J; Barreto, Celeste C; Harris, Ann A; Amaral, Margarida D MD
Publication Date: 2009

Variant appearance in text: CFTR: M150V
PubMed Link: 19910674
Variant Present in the following documents:
  • Main text
View BVdb publication page