|
CFTR-NGS variants catalogue
Variant hg19:chr7:117141801C/A
| Name | NM_000492.4:c.54-2489_54-2482dup8 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117141818_117141825dup UCSC |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | CAAAAAAAAAAAAAAAAAAAAAAAA -------- GAAACAAAAAAAAAAAAAAAACAAA |
| Mutant sequence | CAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA GAAACAAAAAAAAAAAAAAAACAAA |
| MAF (GnomAD) | 2.61e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-28) AL: 0.00 (3) DG: 0.00 (-15) DL: 0.00 (0) |
 Not found |  Not found | dbSNP rs1244303856 |  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 | 1 |
|---|---|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 7015 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 257 | 8 |
