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CFTR-NGS variants catalogue
Variant hg19:chr7:117280015C/T
| Name | NM_000492.4:c.3718-2477C>T |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117280015C>T UCSC gnomAD |
| #Exon/intron | intron 22 |
| Legacy Name | 3849+10kbC>T |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | varying clinical consequence |
| WT sequence | TCCATCTGTTGCAGTATTAAAATGG C GAGTAAGACACCCTGAAAGGAAATG |
| Mutant sequence | TCCATCTGTTGCAGTATTAAAATGG T GAGTAAGACACCCTGAAAGGAAATG |
| MAF (GnomAD) | 1.33e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-11) AL: 0.00 (36) DG: 0.16 (-2) DL: 0.00 (36) |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
69 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 1 |
|---|---|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 8 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 4049 | 418 |
