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CFTR-NGS variants catalogue
Variant hg19:chr7:117154842G/A
| Name | NM_000492.4:c.273+5646G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117154842G>A UCSC gnomAD |
| #Exon/intron | intron 3 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ACACTCCCACTAACAGTGTAAAAGC G TTCCTATTTCTCCACAGCCTCACCA |
| Mutant sequence | ACACTCCCACTAACAGTGTAAAAGC A TTCCTATTTCTCCACAGCCTCACCA |
| MAF (GnomAD) | 1.07e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-9) AL: 0.00 (18) DG: 0.00 (-9) DL: 0.00 (18) |
 Not found |  Not found | dbSNP rs150566692 |  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 | 2 |
|---|---|
| CF | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m1558 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 4239 | 308 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 89 | 15 |
