|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.4243-33del |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117306929del UCSC |
| #Exon/intron | intron 26 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | VUS |
| Subclass | VUS3 |
| WT sequence | CCCTGCTCTGGTCTGACCTGCCTTC T GTCCCAGATCTCACTAACAGCCATT |
| Mutant sequence | CCCTGCTCTGGTCTGACCTGCCTTC - GTCCCAGATCTCACTAACAGCCATT |
| 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 |
No patient found in CFTR-NGS |
No patient found in CFTR-France |
