|
CFTR-NGS variants catalogue
Variant hg19:chr7:117295375G/A
| Name | NM_000492.4:c.3963+2390G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117295375G>A UCSC gnomAD |
| #Exon/intron | intron 24 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AAACATTCAATTTCATTGCTTTCAA G TTCTGCCTTCCACAAAACACTAGGA |
| Mutant sequence | AAACATTCAATTTCATTGCTTTCAA A TTCTGCCTTCCACAAAACACTAGGA |
| MAF (GnomAD) | 8.56e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (24) AL: 0.00 (1) DG: 0.00 (13) DL: 0.00 (-40) |
 Not found |  Not found | dbSNP rs35164769 |  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 | 13 |
|---|---|
| Asymptomatic | 4 |
| CF | 2 |
| CFTR-RD | 1
|
| Pending (NBS) | 2 |
| Suspicion of CF | 4 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 2210 | 166 |
| MUCO07407 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1755 | 122 |
| m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 3951 | 368 |
| T17 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 5427 | 506 |
| 9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 7475 | 622 |
| 9078 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 7678 | 587 |
| 16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 3166 | 264 |
| 1 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 7622 | 650 |
| 5543 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 4665 | 331 |
| 8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 4899 | 389 |
| 7015 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 6814 | 598 |
| m8852 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 4686 | 334 |
| P6Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 12950 | 876 |
