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CFTR-NGS variants catalogue
Variant hg19:chr7:117158642A/ATG
| Name | NM_000492.4:c.273+9452_273+9453dupGT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117158648_117158649dup UCSC |
| #Exon/intron | intron 3 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | TATATATATATATATATATGTGTGT -- TTTCTGCCTTTCATTTTTAGAGACA |
| Mutant sequence | TATATATATATATATATATGTGTGT GT TTTCTGCCTTTCATTTTTAGAGACA |
| MAF (GnomAD) | 1.33e-02 |
| Splicing prediction (SpliceAI) | - |
 Not found |  Not found | dbSNP no rs |  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 | 4 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 2962 | 0 |
| 9880 | CF | Montpellier | 160218_varilh | homozygous | PASS | 1970 | 70 |
| P1Co | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 2962 | 0 |
| m9730 | Suspicion of CF | Montpellier | 151220_Altieri | homozygous | PASS | 6280 | 250 |
