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CFTR-NGS variants catalogue
Variant hg19:chr7:117189266A/G
| Name | NM_000492.4:c.1392+389A>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117189266A>G UCSC gnomAD |
| #Exon/intron | intron 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ACATTTTGCCTTAGTAACCACATAA A CAAAAGGTCTCCATTTTTGTTAACA |
| Mutant sequence | ACATTTTGCCTTAGTAACCACATAA G CAAAAGGTCTCCATTTTTGTTAACA |
| MAF (GnomAD) | 1.45e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-39) AL: 0.00 (-50) DG: 0.00 (6) DL: 0.00 (-13) |
 Not found |  Not found | dbSNP rs137863269 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| not verified | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 6 |
|---|---|
| Asymptomatic | 2 |
| CF | 1 |
| CFTR-RD | 1
|
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9878 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 1237 | 651 |
| T8 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 778 | 419 |
| 21 | CF | Montpellier | 150517_varilh | heterozygous | LowVariantFreq | 1432 | 723 |
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | LowVariantFreq | 653 | 256 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | alleleBias | 938 | 0 |
| cad200367 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | LowVariantFreq | 85 | 137 |
