|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.3419_3421del |
| Protein name | NP_000483.3:p.(Met1140del) |
| Genomic name (hg19) | chr7:g.117254718_117254720del UCSC |
| #Exon/intron | exon 21 |
| Legacy Name | ΔM1140 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| WT sequence | ATCCTGACTTTAGCCATGAATATCA TGA GTACATTGCAGTGGGCTGTAAACTC |
| Mutant sequence | ATCCTGACTTTAGCCATGAATATCA --- GTACATTGCAGTGGGCTGTAAACTC |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |  Not found | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |
