|
CFTR-NGS variants catalogue
Variant hg19:chr7:117208626A/G
| Name | NM_000492.4:c.1584+8917A>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117208626A>G UCSC gnomAD |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AAGATGATGCCAATTTTTAAAAATA A TTTAACATTTATTTTTAAATATTTT |
| Mutant sequence | AAGATGATGCCAATTTTTAAAAATA G TTTAACATTTATTTTTAAATATTTT |
| MAF (GnomAD) | 4.84e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (1) AL: 0.00 (31) DG: 0.00 (-1) DL: 0.00 (40) |
 Not found |  Not found | dbSNP rs34623881 |  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 | 2 |
|---|---|
| Asymptomatic | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 3280 | 97 |
| cad200291 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 886 | 79 |
