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CFTR-NGS variants catalogue
Variant hg19:chr7:117128129G/A
| Name | NM_000492.4:c.53+7928G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117128129G>A UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ACCAACACAAAAGCATCACTTTTTC G ACCAAAGACCATTGCTATACTTTTT |
| Mutant sequence | ACCAACACAAAAGCATCACTTTTTC A ACCAAAGACCATTGCTATACTTTTT |
| MAF (GnomAD) | 1.83e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (45) AL: 0.00 (-41) DG: 0.00 (-12) DL: 0.00 (43) |
 Not found |  Not found | dbSNP rs77645234 |  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 | 4 |
|---|---|
| Asymptomatic | 2 |
| Pending (NBS) | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07299 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 3051 | 319 |
| T17 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 3013 | 256 |
| 1 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 5201 | 462 |
| m8852 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 1577 | 145 |
