catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.1579_1584+11del
Protein name NP_000483.3:p.(Gln525Leufs*37)
Genomic name (hg19) chr7:g.117199699_117227798del    UCSC    
#Exon/intron exon 11
Legacy Name 1706del17
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TACAGAAGCGTCATCAAAGCATGCC AACTAG [28088bp] GACATC TCCAAGTTTGCAGAGAAAGACAATA
Mutant sequence TACAGAAGCGTCATCAAAGCATGCC ----------------------- TCCAAGTTTGCAGAGAAAGACAATA


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

1 individual reported in CFTR-France







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