|
CFTR-NGS variants catalogue
Variant hg19:chr7:117272209G/C
| Name | NM_000492.4:c.3717+4385G>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117272209G>C UCSC gnomAD |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | GAACTTATGAGAAATGTTCATTCTT G GGCCCCAACAAAGAATTAAAAATTC |
| Mutant sequence | GAACTTATGAGAAATGTTCATTCTT C GGCCCCAACAAAGAATTAAAAATTC |
| MAF (GnomAD) | 1.61e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-44) AL: 0.00 (-30) DG: 0.00 (30) DL: 0.00 (-30) |
 Not found |  Not found | dbSNP rs34448325 |  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 | 6 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| Pending (NBS) | 2 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9881 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 5840 | 516 |
| 9880 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 3863 | 380 |
| 3357 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3202 | 313 |
| 6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 4349 | 500 |
| cad190201 | Pending (NBS) | Montpellier | 150419_Altieri | heterozygous | PASS | 3373 | 287 |
| m9196 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 3036 | 343 |
