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CFTR-NGS variants catalogue
Variant hg19:chr7:117252077G/A
| Name | NM_000492.4:c.3367+215G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117252077G>A UCSC gnomAD |
| #Exon/intron | intron 20 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TGAAATCGGATATATATATATATAT G TATATATATATATATATATATATAT |
| Mutant sequence | TGAAATCGGATATATATATATATAT A TATATATATATATATATATATATAT |
| MAF (GnomAD) | 2.35e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (40) AL: 0.00 (46) DG: 0.00 (39) DL: 0.00 (-1) |
 Not found |  Not found | dbSNP no rs |  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 | 3 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 572 | 100 |
| m2369 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 425 | 80 |
| 5 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | LowQD | 36 | 24 |
