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CFTR-NGS variants catalogue
Variant hg19:chr7:117273697G/GT
| Name | NM_000492.4:c.3717+5885dupT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117273709dup UCSC |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | GTTTTTGTAGAAGTTTTTTTTTTTT - AAGTTGAAGAAGTCTCCTTCTATTT |
| Mutant sequence | GTTTTTGTAGAAGTTTTTTTTTTTT T AAGTTGAAGAAGTCTCCTTCTATTT |
| MAF (GnomAD) | 8.44e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-2) AL: 0.00 (42) DG: 0.00 (-32) DL: 0.00 (-30) |
 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 |
|---|---|
| Infertility | 1 |
| Pending (NBS) | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m9437 | Infertility | Montpellier | 150419_Altieri | heterozygous | PASS | 149 | 55 |
| m8584 | Pending (NBS) | Montpellier | 150419_Altieri | heterozygous | LowVariantFreq | 123 | 80 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 766 | 392 |
