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CFTR-NGS variants catalogue
Variant hg19:chr7:117176815T/A
| Name | NM_000492.4:c.869+88T>A |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117176815T>A UCSC gnomAD |
| #Exon/intron | intron 7 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | VUS |
| WT sequence | TTTATCATGGTAGACTTCCACCTCA T ATTTGATGTTTGTGACAATCAAATG |
| Mutant sequence | TTTATCATGGTAGACTTCCACCTCA A ATTTGATGTTTGTGACAATCAAATG |
| MAF (GnomAD) | 1.51e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-12) AL: 0.00 (38) DG: 0.00 (7) DL: 0.00 (-17) |
 Not found |  Not found | dbSNP rs79718042 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
1 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 2 |
|---|---|
| Asymptomatic | 1 |
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07407 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1560 | 120 |
| 3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 5568 | 470 |
