CFTR-NGS variants catalogue
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 |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
dbSNP no rs | Not found | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |