catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.4197_4198del
Protein name NP_000483.3:p.(Cys1400*)
Genomic name (hg19) chr7:g.117305573_117305574del    UCSC    
#Exon/intron exon 26
Legacy Name 4326delTC
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence CATTTGCTGATTGCACAGTAATTCT CT GTGAACACAGGATAGAAGCAATGCT
Mutant sequence CATTTGCTGATTGCACAGTAATTCT -- GTGAACACAGGATAGAAGCAATGCT


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




External sources:
573
1665
dbSNP
no rs

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







Go to CFTRare
VLMCHUUM