CFTR-NGS variants catalogue
Name | NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del |
Protein name | NP_000483.3:p.(Leu997_Leu1156del) |
#Exon/intron | intron 18 |
Legacy Name | Del exon 17a-17b-18 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
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![]() | dbSNP no rs | ![]() Not found | ![]() Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |