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CFTR-NGS variants catalogue
Variant hg19:chr7:117246808G/A
| Name | NM_000492.4:c.2988+1G>A |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117246808G>A UCSC gnomAD |
| #Exon/intron | intron 18 |
| Legacy Name | 3120+1G>A |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TCTTACCATATTTGACTTCATCCAG G TATGTAAAAATAAGTACCGTTAAGT |
| Mutant sequence | TCTTACCATATTTGACTTCATCCAG A TATGTAAAAATAAGTACCGTTAAGT |
| MAF (GnomAD) | 2.94e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (18) AL: 0.00 (0) DG: 0.00 (18) DL: 0.99 (-1) |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
41 individuals carrying this variant are reported 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 |
|---|---|---|---|---|---|---|---|
| cad200366 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 612 | 174 |
