|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.2443del |
| Protein name | NP_000483.3:p.(Glu815Lysfs*6) |
| Genomic name (hg19) | chr7:g.117232664del UCSC |
| #Exon/intron | exon 14 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TATATATTCAAGAAGGTTATCTCAA G AAACTGGCTTGGAAATAAGTGAAGA |
| Mutant sequence | TATATATTCAAGAAGGTTATCTCAA - AAACTGGCTTGGAAATAAGTGAAGA |
| 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 |
