|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.2259C>T |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117232480C>T UCSC gnomAD |
| #Exon/intron | exon 14 |
| Legacy Name | S753S (2391C/T) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | VUS |
| Subclass | VUS3 |
| WT sequence | GAGAGGCGATACTGCCTCGCATCAG C GTGATCAGCACTGGCCCCACGCTTC |
| Mutant sequence | GAGAGGCGATACTGCCTCGCATCAG T GTGATCAGCACTGGCCCCACGCTTC |
| 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 |
