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CFTR-NGS variants catalogue
Variant hg19:chr7:117178929G/A
| Name | NM_000492.4:c.870-1225G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117178929G>A UCSC gnomAD |
| #Exon/intron | intron 7 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ACCTAAATAGACGGAATTGCAATCC G GGTTGGGCACATTAAACTCCATTTT |
| Mutant sequence | ACCTAAATAGACGGAATTGCAATCC A GGTTGGGCACATTAAACTCCATTTT |
| MAF (GnomAD) | 1.85e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (2) AL: 0.00 (44) DG: 0.00 (1) DL: 0.00 (-37) |
 Not found |  Not found | dbSNP rs17449231 |  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 | 6 |
|---|---|
| Asymptomatic | 2 |
| CFTR-RD | 1
|
| Suspicion of CF | 3 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 4403 | 388 |
| 8989 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 5108 | 421 |
| 16MU00179 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 4789 | 384 |
| P5Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 3583 | 289 |
| cad200211 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 2899 | 264 |
| cad200369 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 5916 | 611 |
