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CFTR-NGS variants catalogue
Variant hg19:chr7:117127127C/T
| Name | NM_000492.4:c.53+6926C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117127127C>T UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TGCTTATTGAATGAGAAAATTTAAT C GGAGAAGAAGGCATGGAGCAGGAGT |
| Mutant sequence | TGCTTATTGAATGAGAAAATTTAAT T GGAGAAGAAGGCATGGAGCAGGAGT |
| MAF (GnomAD) | 4.15e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (5) AL: 0.00 (-40) DG: 0.00 (-7) DL: 0.00 (35) |
 Not found |  Not found | dbSNP rs190345540 |  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 |
|---|---|
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 2355 | 257 |
| P4Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 10061 | 803 |
