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CFTR-NGS variants catalogue
Variant hg19:chr7:117144810T/TAA
| Name | NM_000492.4:c.164+409_164+410dupAA |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117144826_117144827dup UCSC |
| #Exon/intron | intron 2 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | CTCTCTCTAAAAAAAAAAAAAAAAA -- GGAACATCTCATTTTCACACTGAAA |
| Mutant sequence | CTCTCTCTAAAAAAAAAAAAAAAAA AA GGAACATCTCATTTTCACACTGAAA |
| MAF (GnomAD) | 1.89e-01 |
| Splicing prediction (SpliceAI) | - |
 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 | 7 |
|---|---|
| Asymptomatic | 2 |
| CFTR-RD | 3
|
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 5775 | 48 |
| T18 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 131 | 77 |
| 4709 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 475 | 141 |
| 5914 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 278 | 103 |
| 16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 146 | 40 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 528 | 74 |
| 8 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 524 | 186 |
