|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.3718-5379_3718-5376delTGCC |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117277113_117277116del UCSC |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CTTGAACTCCTAACCTCAAGTGATC TGCC CACCTTAGCCTCCCAAATTGCTGGG |
| Mutant sequence | CTTGAACTCCTAACCTCAAGTGATC ---- CACCTTAGCCTCCCAAATTGCTGGG |
| 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) |
| not verified | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |
