CFTR-NGS variants catalogue
Name | NM_000492.4:c.744-33GATT[4] |
#Exon/intron | intron 6 |
Type in CFTR-NGS catalogue | repeat |
Class in CFTR-France | VUS |
Subclass | VUS3 |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
![]() Not found | ![]() Not found | dbSNP no rs | ![]() Not found | ![]() Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |