|
CFTR-NGS variants catalogue
| Name | NM_000492.4:c.489+564_489+565insAGAACCTACTCTGC |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117171732_117171733insAGAACCTACTCTGC UCSC |
| #Exon/intron | intron 4 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AACCTACTCTGCTTTTCTGCATGTA -------------- TTGTCCAGACAAGAGACCAAATTGC |
| Mutant sequence | AACCTACTCTGCTTTTCTGCATGTA AGAACCTACTCTGC TTGTCCAGACAAGAGACCAAATTGC |
| 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 |
