catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.577G>T
Protein name NP_000483.3:p.(Glu193*)
Genomic name (hg19) chr7:g.117174417G>T    UCSC    gnomAD
#Exon/intron exon 5
Legacy Name E193X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TTCCAACAACCTGAACAAATTTGAT G AAGTATGTACCTATTGATTTAATCT
Mutant sequence TTCCAACAACCTGAACAAATTTGAT T AAGTATGTACCTATTGATTTAATCT


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




External sources:
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

2 individuals reported in CFTR-France







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