catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.3468+6401_3468+6404del5
#Exon/intron UTR 5
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported


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




External sources:

Not found

Not found
dbSNP
no rs

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
not verifiednot performed


No patient found in CFTR-NGS

No patient found in CFTR-France







Go to CFTRare
VLMCHUUM