|
CFTR-NGS variants catalogue
Variant hg19:chr7:117262012C/T
| Name | NM_000492.4:c.3469-5564C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117262012C>T UCSC gnomAD |
| #Exon/intron | intron 21 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AAATGGGCACCAGCATATTTTGAAA C GTTGGTGTTAACTTGGGATATGCCT |
| Mutant sequence | AAATGGGCACCAGCATATTTTGAAA T GTTGGTGTTAACTTGGGATATGCCT |
| MAF (GnomAD) | 3.63e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (45) AL: 0.00 (-31) DG: 0.00 (34) DL: 0.00 (0) |
 Not found |  Not found | dbSNP rs150458994 |  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 |
|---|---|---|---|---|---|---|---|
| 8 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 4312 | 386 |
