catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.2051_2052del
Protein name NP_000483.3:p.(Lys684Thrfs*4)
Genomic name (hg19) chr7:g.117232272_117232273del    UCSC    
#Exon/intron exon 14
Legacy Name 2183delAA
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence CCTGTCTCCTGGACAGAAACAAAAA AA CAATCTTTTAAACAGACTGGAGAGT
Mutant sequence CCTGTCTCCTGGACAGAAACAAAAA -- CAATCTTTTAAACAGACTGGAGAGT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -




External sources:
dbSNP
no rs
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
presentnot performed


No patient found in CFTR-NGS

1 individual reported in CFTR-France







Go to CFTRare
VLMCHUUM