catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.1210-12T[5]
#Exon/intron intron 9
Legacy Name poly-T tract variations
Type in CFTR-NGS catalogue repeat
Class in CFTR-France disease-causing
Subclass varying clinical consequence


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





External sources:
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

70 individuals reported in CFTR-France







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