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CFTR-NGS variants catalogue
Variant hg19:chr7:117188918G/A
| Name | NM_000492.4:c.1392+41G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117188918G>A UCSC gnomAD |
| #Exon/intron | intron 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TTCACTATTAAGAACTTAATTTGGT G TCCATGTCTCTTTTTTTTTCTAGTT |
| Mutant sequence | TTCACTATTAAGAACTTAATTTGGT A TCCATGTCTCTTTTTTTTTCTAGTT |
| MAF (GnomAD) | 0.00e+00 |
| Splicing prediction (SpliceAI) | AG: 0.00 (24) AL: 0.00 (-45) DG: 0.00 (-41) DL: 0.00 (-46) |
 Not found |  Not found | dbSNP rs3993862 |  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 | 6 |
| CFTR-RD | 4
|
| Pending (NBS) | 3 |
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 298 | 0 |
| 9004 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | alleleBias | 2234 | 0 |
| 9005 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | alleleBias | 1268 | 0 |
| MUCO07621 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 683 | 0 |
| MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 1480 | 0 |
| MUCO07585 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 1155 | 0 |
| 3199 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 1502 | 0 |
| 5004 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 930 | 0 |
| 8442 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 1940 | 0 |
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 615 | 0 |
| 6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | alleleBias | 1407 | 0 |
| 5847 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | alleleBias | 1161 | 0 |
| 5543 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | alleleBias | 826 | 0 |
| 8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | alleleBias | 1014 | 0 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | alleleBias | 1271 | 0 |
