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CFTR-NGS variants catalogue
Variant hg19:chr7:117192165T/A
| Name | NM_000492.4:c.1392+3288T>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117192165T>A UCSC gnomAD |
| #Exon/intron | intron 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ATATATATATGACACTATACATGAT T TATTTTATTTAATTTTTAAAATTTT |
| Mutant sequence | ATATATATATGACACTATACATGAT A TATTTTATTTAATTTTTAAAATTTT |
| MAF (GnomAD) | 7.68e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (37) AL: 0.00 (-37) DG: 0.00 (-3) DL: 0.00 (-13) |
 Not found |  Not found | dbSNP rs528507044 |  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 | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| P2B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 1446 | 124 |
| 18MU01177 | CF | Cochin | 150419_Altieri | heterozygous | PASS | 1458 | 76 |
