|
CFTR-NGS variants catalogue
Variant hg19:chr7:117286166C/T
| Name | NM_000492.4:c.3873+3519C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117286166C>T UCSC gnomAD |
| #Exon/intron | intron 23 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AGGCAAGTTATTTGATTTCTCTGTG C CTCTGTTTTCTTGTCTGTAAAATGA |
| Mutant sequence | AGGCAAGTTATTTGATTTCTCTGTG T CTCTGTTTTCTTGTCTGTAAAATGA |
| MAF (GnomAD) | 2.17e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (38) AL: 0.00 (12) DG: 0.00 (-24) DL: 0.00 (33) |
 Not found |  Not found | dbSNP rs766900915 |  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 |
|---|---|
| Pending (NBS) | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| cad190201 | Pending (NBS) | Montpellier | 150419_Altieri | heterozygous | PASS | 1491 | 160 |
