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CFTR-NGS variants catalogue
Variant hg19:chr7:117139483C/CTGTGTGTGTGTGTG
| Name | NM_000492.4:c.54-4804_54-4791dup14 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117139503_117139516dup UCSC |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | TGTGTGTGTGTGTGTGTGTGTGTGT -------------- TTAAAAAATCAAGTGATAGGGCTTT |
| Mutant sequence | TGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT TTAAAAAATCAAGTGATAGGGCTTT |
| MAF (GnomAD) | 6.95e-02 |
| Splicing prediction (SpliceAI) | - |
 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 | 9 |
|---|---|
| CF | 1 |
| CFTR-RD | 3
|
| Infertility | 1 |
| Pending (NBS) | 2 |
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 4 | CF | Montpellier | 150517_varilh | homozygous | PASS | 1243 | 12 |
| 4709 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3896 | 43 |
| 5914 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 1568 | 0 |
| 16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 917 | 56 |
| m9438 | Infertility | Montpellier | 150419_Altieri | heterozygous | PASS | 613 | 50 |
| 1 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 1811 | 121 |
| 6 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 2010 | 42 |
| 8892 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 439 | 25 |
| 8 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 882 | 65 |
