Variant NM_000492.4:c.1820_1903del


Variant details:
Name NM_000492.4:c.1820_1903del
Protein name NP_000483.3:p.(Met607_Gln634del)
Genomic name (hg19) chr7:g.117232041_117232124del    UCSC    
#Exon/intron exon 14
Legacy Name 1949del84
Class disease-causing
Subclass CF-causing
WT sequence ACTAGGATTTTGGTCACTTCTAAAA TGGAAC [72bp] TCCAAA ATCTACAGCCAGACTTTAGCTCAAA
Mutant sequence ACTAGGATTTTGGTCACTTCTAAAA -------------------- ATCTACAGCCAGACTTTAGCTCAAA







External sources:
dbSNP
rs121908777
Not found
Not found







No patient found in CFTR-NGS catalogue


5 patients carrying this variant are reported in CFTR-France:

TOTAL NUMBER OF PATIENTS 5
CF 4
CFTR-RD1
  • CBAVD  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 240heterozygoteCF-causing- Undef
CF 5512heterozygoteCF-causing - Trans
CF 1166heterozygoteCF-causing- Undef
CF 4207heterozygoteCF-causing- Undef
CBAVD 518heterozygoteCFTR-RD-causing- Undef


Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   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