Variant NM_000492.4:c.416A>G


Variant details:
Name NM_000492.4:c.416A>G
Protein name NP_000483.3:p.(His139Arg)
Genomic name (hg19) chr7:g.117171095A>G    UCSC    
#Exon/intron exon 4
Legacy Name H139R
Class disease-causing
WT sequence TTTATTGTGAGGACACTGCTCCTAC A CCCAGCCATTTTTGGCCTTCATCAC
Mutant sequence TTTATTGTGAGGACACTGCTCCTAC G CCCAGCCATTTTTGGCCTTCATCAC

Other databases:
dbSNP
rs76371115



Pathogenicity predictors:



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVAnononono
TEZ-IVAnononono
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex

No patient found in CFTR-NGS catalogue

No patient found in CFTR-France




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

            CFTR variants are clustered into five groups:
  • CF-causing: when in trans with another CF-causing mutation, will result in CF.
  • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
  • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
  • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
  • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



Go to CFTRare