|
CFTR-NGS variants catalogue
Variant hg19:chr7:117122881G/A
| Name | NM_000492.4:c.53+2680G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117122881G>A UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TCATATTTCGTTTAGTTGTAAGAGT G TATATCAAACCGTGTGTCACATGAC |
| Mutant sequence | TCATATTTCGTTTAGTTGTAAGAGT A TATATCAAACCGTGTGTCACATGAC |
| MAF (GnomAD) | 1.06e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (41) AL: 0.00 (-10) DG: 0.00 (-9) DL: 0.00 (-1) |
 Not found |  Not found | dbSNP rs188419818 |  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 | 1 |
|---|---|
| Pending (NBS) | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 3 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 5346 | 355 |
