|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.1397C>A |
| Protein name | NP_000483.3:p.(Ser466*) |
| Genomic name (hg19) | chr7:g.117199522C>A UCSC gnomAD |
| #Exon/intron | exon 11 |
| Legacy Name | S466X(TAA) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| WT sequence | AATGATGGGTTTTATTTCCAGACTT C ACTTCTAATGGTGATTATGGGAGAA |
| Mutant sequence | AATGATGGGTTTTATTTCCAGACTT A ACTTCTAATGGTGATTATGGGAGAA |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |
 | 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 |
