catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.3964-78_4242+577del
Protein name NP_000483.3:p.(Gly1323_Val1415del)
Genomic name (hg19) chr7:g.117304664_117306195del    UCSC    
#Exon/intron intron 24
Legacy Name CFTRdele22,23 ; Del exon 22-23
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence ATGAAAAACATAAGCTTTCAGAACT CCTGTG [1520bp] ATTACT TGAGGCCAGGAATTCAAGACCAGCC
Mutant sequence ATGAAAAACATAAGCTTTCAGAACT ---------------------- TGAGGCCAGGAATTCAAGACCAGCC


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





External sources:
1415
1458
 dbSNP
no rs
Not found
Not found

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


No patient found in CFTR-NGS

3 individuals reported in CFTR-France







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