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CFTR-NGS variants catalogue
Variant hg19:chr7:117139483C/CTGTGTGTGTGTG,CTGTGTGTGTG,CTG
| Name | NM_000492.4:c.54-4802_54-4791dup12 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117139505_117139516dup UCSC |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | TGTGTGTGTGTGTGTGTGTGTGTGT ------------ TTAAAAAATCAAGTGATAGGGCTTT |
| Mutant sequence | TGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT TTAAAAAATCAAGTGATAGGGCTTT |
| MAF (GnomAD) | - |
| 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 | 2 |
| 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 | 1555 | 227 |
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | homozygous | PASS | 1018 | 20 |
| 3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 858 | 56 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 217 | 18 |
