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CFTR-NGS variants catalogue
Variant hg19:chr7:117243826G/A
| Name | NM_000492.4:c.2898G>A |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117243826G>A UCSC gnomAD |
| #Exon/intron | exon 17 |
| Legacy Name | T966T (3030G/A) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| WT sequence | AAGCACCTATGTCAACCCTCAACAC G TTGAAAGCAGGTACTTTACTAGGTC |
| Mutant sequence | AAGCACCTATGTCAACCCTCAACAC A TTGAAAGCAGGTACTTTACTAGGTC |
| MAF (GnomAD) | 8.89e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (11) AL: 0.00 (-22) DG: 0.00 (6) DL: 0.01 (10) |
 |  Not found | dbSNP rs1800109 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
15 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 |
|---|---|---|---|---|---|---|---|
| 8293 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 3007 | 360 |
