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CFTR-NGS variants catalogue
Variant hg19:chr7:117150312C/T
| Name | NM_000492.4:c.273+1116C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117150312C>T UCSC gnomAD |
| #Exon/intron | intron 3 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | GATAATTAAATTACTTTTAAGTTAC C TTTGAGATGATTTTTCTCAATCAGA |
| Mutant sequence | GATAATTAAATTACTTTTAAGTTAC T TTTGAGATGATTTTTCTCAATCAGA |
| MAF (GnomAD) | 2.18e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (25) AL: 0.00 (-4) DG: 0.00 (-33) DL: 0.00 (-4) |
 Not found |  Not found | dbSNP rs138121767 |  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 | 15 |
|---|---|
| Asymptomatic | 3 |
| CF | 2 |
| CFTR-RD | 1
|
| Suspicion of CF | 9 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m9946 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 1233 | 124 |
| m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 2083 | 205 |
| 8989 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 3961 | 378 |
| P3Cr | CF | Montpellier | 230414_varilh | heterozygous | PASS | 2940 | 215 |
| 18MU01177 | CF | Cochin | 150419_Altieri | heterozygous | PASS | 1792 | 207 |
| 5004 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 5031 | 457 |
| csg182474 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 563 | 128 |
| cad200369 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1544 | 183 |
| cad190462 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1104 | 146 |
| csg183384 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1032 | 141 |
| m1552 | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 5247 | 379 |
| m10080 | Suspicion of CF | Montpellier | 150419_Altieri | homozygous | PASS | 4743 | 163 |
| 8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 4783 | 439 |
| P1Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 610 | 50 |
| m4857 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1380 | 165 |
