|
CFTR-NGS variants catalogue
Variant hg19:chr7:117306991C/T
| Name | NM_000492.4:c.4272C>T |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117306991C>T UCSC gnomAD |
| #Exon/intron | exon 27 |
| Legacy Name | Y1424Y (4404C/T) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| WT sequence | TAGAAGAGAACAAAGTGCGGCAGTA C GATTCCATCCAGAAACTGCTGAACG |
| Mutant sequence | TAGAAGAGAACAAAGTGCGGCAGTA T GATTCCATCCAGAAACTGCTGAACG |
| MAF (GnomAD) | 6.53e-03 |
| Splicing prediction (SpliceAI) | AG: 0.02 (-22) AL: 0.00 (-29) DG: 0.00 (-12) DL: 0.00 (-4) |
 |  Not found | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
18 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 2 |
|---|---|
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 7015 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 5350 | 574 |
| 8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 5164 | 430 |
