CFTR-NGS variants catalogue
Name | NM_000492.4:c.(1584+1_1585-1)_(1766+1_1767-1)del |
Protein name | NP_000483.3:p.(Asp529Leufs*4) |
#Exon/intron | intron 11 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
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 |