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CFTR-NGS variants catalogue
Variant hg19:chr7:117282620G/A
| Name | NM_000492.4:c.3846G>A |
| Protein name | NP_000483.3:p.(Trp1282*) |
| Genomic name (hg19) | chr7:g.117282620G>A UCSC gnomAD |
| #Exon/intron | exon 23 |
| Legacy Name | W1282X |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | GGGATTCAATAACTTTGCAACAGTG G AGGAAAGCCTTTGGAGTGATACCAC |
| Mutant sequence | GGGATTCAATAACTTTGCAACAGTG A AGGAAAGCCTTTGGAGTGATACCAC |
| MAF (GnomAD) | 3.35e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (27) AL: 0.00 (-2) DG: 0.00 (-35) DL: 0.01 (27) |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
80 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 2 |
|---|---|
| Asymptomatic | 1 |
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07407 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 719 | 61 |
| P1Co | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 1168 | 89 |
