|
CFTR-NGS variants catalogue
Variant hg19:chr7:117250479C/CA
| Name | NM_000492.4:c.2989-81dupA |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117250492dup UCSC |
| #Exon/intron | intron 18 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | TTTAAAGTATGCAAAAAAAAAAAAA - GAAATAAATCACTGACACACTTTGT |
| Mutant sequence | TTTAAAGTATGCAAAAAAAAAAAAA A GAAATAAATCACTGACACACTTTGT |
| MAF (GnomAD) | 2.05e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (32) AL: 0.00 (43) DG: 0.00 (-46) DL: 0.00 (-6) |
 Not found |  Not found | dbSNP no rs |  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 |
| CFTR-RD | 1
|
| Pending (NBS) | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| T17 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 2930 | 631 |
| 5004 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 1447 | 357 |
| 3 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 2911 | 536 |
