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CFTR-NGS variants catalogue
Variant hg19:chr7:117139483C/CTG
| Name | NM_000492.4:c.54-4792_54-4791dupGT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117139515_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 GT TTAAAAAATCAAGTGATAGGGCTTT |
| MAF (GnomAD) | 5.42e-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 | 8 |
|---|---|
| Asymptomatic | 3 |
| Pending (NBS) | 2 |
| Suspicion of CF | 3 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m2761 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 588 | 229 |
| MUCO07621 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 25 | 0 |
| 9004 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | alleleBias | 121 | 0 |
| 6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 1670 | 56 |
| 3 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 1641 | 104 |
| P6Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 791 | 200 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1615 | 50 |
| 8293 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1506 | 44 |
