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CFTR-NGS variants catalogue
Variant hg19:chr7:117188681TG/T
| Name | NM_000492.4:c.1210-13delG |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117188682del UCSC |
| #Exon/intron | intron 9 |
| Legacy Name | TG10T8 |
| Type in CFTR-NGS catalogue | TG-T |
| Class in CFTR-France | VUS |
| Subclass | VUS3 |
| WT sequence | TTGATGTGTGTGTGTGTGTGTGTGT G TTTTTTTAACAGGGATTTGGGGAAT |
| Mutant sequence | TTGATGTGTGTGTGTGTGTGTGTGT - TTTTTTTAACAGGGATTTGGGGAAT |
| MAF (GnomAD) | 2.22e-03 |
| Splicing prediction (SpliceAI) | AG: 0.01 (14) AL: 0.00 (16) DG: 0.00 (-14) DL: 0.00 (-4) |
 Not found |  Not found | dbSNP rs750294275 |  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 | 12 |
|---|---|
| Asymptomatic | 4 |
| CF | 2 |
| CFTR-RD | 2
|
| Suspicion of CF | 4 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | homozygous | alleleBias | 2997 | 0 |
| MUCO07658 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 2588 | 0 |
| MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1478 | 0 |
| MUCO07299 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 2976 | 0 |
| m2369 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 413 | 105 |
| P3Cr | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 2994 | 0 |
| P2Cr | CFTR-RD | Montpellier | 230414_varilh | heterozygous | alleleBias | 2994 | 0 |
| 8442 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 2651 | 0 |
| P5Cr | Suspicion of CF | Montpellier | 230414_varilh | homozygous | PASS | 2994 | 0 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | alleleBias | 2994 | 0 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | alleleBias | 391 | 0 |
| 8293 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | alleleBias | 2994 | 0 |
