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CFTR-NGS variants catalogue
Variant hg19:chr7:117274827T/C
| Name | NM_000492.4:c.3717+7003T>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117274827T>C UCSC gnomAD |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TAAAAATTTTCTAGCTATCTTTCTG T TATTGATTTCTAGTTTAATTCCATT |
| Mutant sequence | TAAAAATTTTCTAGCTATCTTTCTG C TATTGATTTCTAGTTTAATTCCATT |
| MAF (GnomAD) | 7.75e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-11) AL: 0.00 (14) DG: 0.00 (-49) DL: 0.00 (14) |
 Not found |  Not found | dbSNP rs118140298 |  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 | 4 |
|---|---|
| CFTR-RD | 1
|
| Pending (NBS) | 2 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 5004 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3295 | 278 |
| 6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 3448 | 355 |
| 3 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 5269 | 400 |
| csg182478 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 112 | 20 |
