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CFTR-NGS variants catalogue
Variant hg19:chr7:117282582G/A
| Name | NM_000492.4:c.3808G>A |
| Protein name | NP_000483.3:p.(Asp1270Asn) |
| Genomic name (hg19) | chr7:g.117282582G>A UCSC gnomAD |
| #Exon/intron | exon 23 |
| Legacy Name | D1270N |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CFTR-RD-causing |
| WT sequence | GAACACTGAAGGAGAAATCCAGATC G ATGGTGTGTCTTGGGATTCAATAAC |
| Mutant sequence | GAACACTGAAGGAGAAATCCAGATC A ATGGTGTGTCTTGGGATTCAATAAC |
| MAF (GnomAD) | 4.39e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (36) AL: 0.00 (-41) DG: 0.00 (3) DL: 0.00 (40) |
 |
 | dbSNP no rs |
 |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
| Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
68 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 2 |
|---|---|
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 1617 | 224 |
| P4Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 9391 | 774 |
