catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
Protein name NP_000483.3:p.(Leu997_Leu1156del)
#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


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





External sources:
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

2 individuals reported in CFTR-France







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