|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.2620-674_3367+198del |
| Protein name | NP_000483.3:p.(Val874Glufs*11) |
| Genomic name (hg19) | chr7:g.117242206_117252060del UCSC |
| #Exon/intron | intron 15 |
| Legacy Name | 2752-674_3499+198del9855 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TGTTCAAGCAATTCTGGTGCCTCGG CCACCT [9843bp] AATCGG ATATATATATATATATGTATATATA |
| Mutant sequence | TGTTCAAGCAATTCTGGTGCCTCGG ---------------------- ATATATATATATATATGTATATATA |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |  Not found | dbSNP no rs |  Not found |  Not found |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
