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CFTR-NGS variants catalogue
Variant hg19:chr7:117239538A/G
| Name | NM_000492.4:c.2620-3342A>G | ||||
| Protein name | NP_000483.3:p.(?) | ||||
| Genomic name (hg19) | chr7:g.117239538A>G UCSC gnomAD | ||||
| #Exon/intron | intron 15 | ||||
| Type in CFTR-NGS catalogue | - | ||||
| Class in CFTR-France | not reported | ||||
Patients reported in CFTR-NGS, carrying this variant also carry: | WT sequence |
AAGAAACTAAATTACAACAGAGAAT A TAAATACCATATAAATATCTATTAT |
Mutant sequence |
AAGAAACTAAATTACAACAGAGAAT G TAAATACCATATAAATATCTATTAT |
|
| MAF (GnomAD) | 7.68e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-28) AL: 0.00 (-5) DG: 0.00 (-1) DL: 0.00 (-28) |
 Not found |  Not found | dbSNP rs766725486 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 5 |
|---|---|
| Asymptomatic | 1 |
| CFTR-RD | 1
|
| Pending (NBS) | 2 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| vd63 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 8050 | 996 |
| vd64 | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 1005 | 472 |
| 2 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 5686 | 476 |
| 7 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3532 | 351 |
| cad190203 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 2017 | 190 |
