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CFTR-NGS variants catalogue
Variant hg19:chr7:117278790C/CATAAATAA
| Name | NM_000492.4:c.3718-3677_3718-3670dup8 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117278815_117278822dup UCSC |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | AATAAATAAATAAATAAATAAATAA -------- TAAAAATAAAAAAATAAAATAAAAC |
| Mutant sequence | AATAAATAAATAAATAAATAAATAA ATAAATAA TAAAAATAAAAAAATAAAATAAAAC |
| MAF (GnomAD) | 1.58e-02 |
| 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 | 2 |
|---|---|
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3896 | 186 |
| m9196 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 357 | 33 |
