catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.2988+1173_3468+2111del
Protein name NP_000483.3:p.(Leu997_Leu1156del)
Genomic name (hg19) chr7:g.117247980_117256878del    UCSC    
#Exon/intron intron 18
Legacy Name Del exon 17a-17b-18
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence AATTCATGCATTCAAAGAAACATGT CCTGAG [8887bp] ATATGT GAGTGATTTCCCTGCCAAATAGCAC
Mutant sequence AATTCATGCATTCAAAGAAACATGT ---------------------- GAGTGATTTCCCTGCCAAATAGCAC


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





External sources:

Not found
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

8 individuals reported in CFTR-France







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