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CFTR-NGS variants catalogue
Variant hg19:chr7:117123788C/CT
| Name | NM_000492.4:c.53+3600dupT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117123801dup UCSC |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | TGCCTGGCTAACTTTTTTTTTTTTT - AAGTTATATAGAGACAGTATCTCAC |
| Mutant sequence | TGCCTGGCTAACTTTTTTTTTTTTT T AAGTTATATAGAGACAGTATCTCAC |
| MAF (GnomAD) | 5.89e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (17) AL: 0.00 (25) DG: 0.00 (-33) DL: 0.00 (-25) |
 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 | 1 |
|---|---|
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 8442 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 1166 | 99 |
