|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.3469-20T>C |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117267556T>C UCSC gnomAD |
| #Exon/intron | intron 21 |
| Legacy Name | 3601-20T>C |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | VUS |
| Subclass | VUS1 |
| WT sequence | TGTCTGCCATTCTTAAAAACAAAAA T GTTGTTATTTTTATTTCAGATGCGA |
| Mutant sequence | TGTCTGCCATTCTTAAAAACAAAAA C GTTGTTATTTTTATTTCAGATGCGA |
| 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 |
