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CFTR-NGS variants catalogue
| Name | NM_000492.4:c.2045del |
| Protein name | NP_000483.3:p.(Thr682Lysfs*40) |
| Genomic name (hg19) | chr7:g.117232266del UCSC |
| #Exon/intron | exon 14 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | GATGCTCCTGTCTCCTGGACAGAAA C AAAAAAACAATCTTTTAAACAGACT |
| Mutant sequence | GATGCTCCTGTCTCCTGGACAGAAA - AAAAAAACAATCTTTTAAACAGACT |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 Not found |  Not found | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
