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CFTR-NGS variants catalogue
Variant hg19:chr7:117206302A/AACACACACAC
| Name | NM_000492.4:c.1584+6622_1584+6631dup10 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117206331_117206340dup UCSC |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | CACACACACACACACACACACACAC ---------- TAGCCAGGCGTGGTGGTGCACGTTT |
| Mutant sequence | CACACACACACACACACACACACAC ACACACACAC TAGCCAGGCGTGGTGGTGCACGTTT |
| MAF (GnomAD) | 2.38e-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 | 7 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| Pending (NBS) | 2 |
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m8583 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 797 | 49 |
| 21 | CF | Montpellier | 150517_varilh | heterozygous | PASS | 285 | 16 |
| P2Cr | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 1266 | 202 |
| 11 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 149 | 17 |
| 3 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 291 | 16 |
| P1Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 1320 | 187 |
| m8852 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 570 | 63 |
