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CFTR-NGS variants catalogue
Variant hg19:chr7:117282644A/G
| Name | NM_000492.4:c.3870A>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117282644A>G UCSC gnomAD |
| #Exon/intron | exon 23 |
| Legacy Name | P1290P (4002A/G) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| WT sequence | GGAGGAAAGCCTTTGGAGTGATACC A CAGGTGAGCAAAAGGACTTAGCCAG |
| Mutant sequence | GGAGGAAAGCCTTTGGAGTGATACC G CAGGTGAGCAAAAGGACTTAGCCAG |
| MAF (GnomAD) | 7.43e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (3) AL: 0.00 (-26) DG: 0.00 (32) DL: 0.02 (3) |
 |  Not found | dbSNP rs1800130 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
48 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 5 |
|---|---|
| Asymptomatic | 2 |
| CFTR-RD | 2
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 2649 | 500 |
| m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 1843 | 233 |
| 6175 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 6686 | 545 |
| 9 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 6554 | 649 |
| m4959 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 4073 | 397 |
