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CFTR-NGS variants catalogue
| Name | NM_000492.4:c.54-1161_164+1603del |
| Protein name | NP_000483.3:p.(Ser18_Glu54del) |
| Genomic name (hg19) | chr7:g.117143146_117146020del UCSC |
| #Exon/intron | intron 1 |
| Legacy Name | CFTR-dele2 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TTTGCCCCAGAACAGTGTCAAAATG TTTGCA [2863bp] CAAATG CCATGAGGTAGGGATACTTTGTTTT |
| Mutant sequence | TTTGCCCCAGAACAGTGTCAAAATG ---------------------- CCATGAGGTAGGGATACTTTGTTTT |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |  Not found | dbSNP no rs |  Not found |  Not found |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
