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CFTR-NGS variants catalogue
Variant hg19:chr7:117198565G/A
| Name | NM_000492.4:c.1393-953G>A |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117198565G>A UCSC gnomAD |
| #Exon/intron | intron 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AGAACTTGCAGTGAGCCGAGATCGC G CCACTGCACTCTAGCCTGGGTGACA |
| Mutant sequence | AGAACTTGCAGTGAGCCGAGATCGC A CCACTGCACTCTAGCCTGGGTGACA |
| MAF (GnomAD) | 3.50e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (37) AL: 0.00 (27) DG: 0.00 (37) DL: 0.00 (27) |
 Not found |  Not found | dbSNP rs202234446 |  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 | 2 |
|---|---|
| CF | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9877 | CF | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 12 | 23 |
| cad200365 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 51 | 29 |
