catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.54-5940_273+10250del
Protein name NP_000483.3:p.(Ser18Argfs*16)
Genomic name (hg19) chr7:g.117138367_117159446del    UCSC    
#Exon/intron intron 1
Legacy Name CFTRdele2,3 ; Del exon 2-3
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TCAAATATACACAAGGCTTGTCTTT AGCGAG [21068bp] CACTTT TACCCTGCCAAAAGCAAAATCTTAA
Mutant sequence TCAAATATACACAAGGCTTGTCTTT ----------------------- TACCCTGCCAAAAGCAAAATCTTAA


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





External sources:
687
1460
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

10 individuals reported in CFTR-France







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