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CFTR-NGS variants catalogue
Variant hg19:chr7:117305631A/G
| Name | NM_000492.4:c.4242+13A>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117305631A>G UCSC gnomAD |
| #Exon/intron | intron 26 |
| Legacy Name | 4374+13A/G |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| WT sequence | CCAACAATTTTTGGTGAGTCTTTAT A ACTTTACTTAAGATCTCATTGCCCT |
| Mutant sequence | CCAACAATTTTTGGTGAGTCTTTAT G ACTTTACTTAAGATCTCATTGCCCT |
| MAF (GnomAD) | 2.92e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-46) AL: 0.00 (-41) DG: 0.00 (-10) DL: 0.00 (-13) |
 |  Not found | dbSNP rs76179227 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
8 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 |
|---|---|---|---|---|---|---|---|
| P6Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 2415 | 197 |
