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CFTR-NGS variants catalogue
Variant hg19:chr7:117180401G/A
| Name | NM_000492.4:c.1116+1G>A |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117180401G>A UCSC gnomAD |
| #Exon/intron | intron 8 |
| Legacy Name | 1248+1G>A |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TCTTGGAGCAATAAACAAAATACAG G TAATGTACCATAATGCTGCATTATA |
| Mutant sequence | TCTTGGAGCAATAAACAAAATACAG A TAATGTACCATAATGCTGCATTATA |
| MAF (GnomAD) | 6.98e-06 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-46) AL: 0.00 (-17) DG: 0.69 (-35) DL: 0.89 (-1) |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
6 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 1 |
|---|---|
| CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3557 | 323 |
