Variant NM_000492.4:c.3011_3019del


Variant details:
Name NM_000492.4:c.3011_3019del
Protein name NP_000483.3:p.(Ala1004_Ala1006del)
Genomic name (hg19) chr7:g.117250595_117250603del    UCSC    
#Exon/intron exon 19
Legacy Name 3143del9
Class disease-causing
WT sequence CAGTTGTTATTAATTGTGATTGGAG CTATAGCAG TTGTCGCAGTTTTACAACCCTACAT
Mutant sequence CAGTTGTTATTAATTGTGATTGGAG --------- TTGTCGCAGTTTTACAACCCTACAT






External sources:

Not found		 dbSNP
rs1562914072
Not found




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



            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.



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