catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.2547C>A
Protein name NP_000483.3:p.(Tyr849*)
Genomic name (hg19) chr7:g.117235040C>A    UCSC    gnomAD
#Exon/intron exon 15
Legacy Name Y849X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
WT sequence CAGCAGTGACTACATGGAACACATA C CTTCGATATATTACTGTCCACAAGA
Mutant sequence CAGCAGTGACTACATGGAACACATA A CTTCGATATATTACTGTCCACAAGA


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

No patient found in CFTR-France







Go to CFTRare
VLMCHUUM