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CFTR-NGS variants catalogue
Variant hg19:chr7:117250741C/T
| Name | NM_000492.4:c.3139+18C>T |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117250741C>T UCSC gnomAD |
| #Exon/intron | intron 19 |
| Legacy Name | 3271+18C/T |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| WT sequence | ATCTGAAGGTATGACAGTGAATGTG C GATACTCATCTTGTAAAAAAGCTAT |
| Mutant sequence | ATCTGAAGGTATGACAGTGAATGTG T GATACTCATCTTGTAAAAAAGCTAT |
| MAF (GnomAD) | 1.25e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-30) AL: 0.00 (-42) DG: 0.00 (-18) DL: 0.00 (-4) |
 |  Not found | dbSNP rs147945812 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
3 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 |
|---|---|---|---|---|---|---|---|
| m1552 | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 3063 | 317 |
