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CFTR-NGS variants catalogue
Variant hg19:chr7:117202817A/G
| Name | NM_000492.4:c.1584+3108A>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117202817A>G UCSC gnomAD |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TACCCTTAGGGCACTACAGAAGCCT A GCTGATGGCTTTTAGCCTGGCTAGA |
| Mutant sequence | TACCCTTAGGGCACTACAGAAGCCT G GCTGATGGCTTTTAGCCTGGCTAGA |
| MAF (GnomAD) | 1.38e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (46) AL: 0.00 (34) DG: 0.00 (48) DL: 0.00 (-41) |
 Not found |  Not found | dbSNP rs116900477 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| not verified | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 3 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 3635 | 336 |
| 9078 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 2742 | 259 |
| 16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 2819 | 273 |
