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CFTR-NGS variants catalogue
Variant hg19:chr7:117188387G/GGTGTGTGTGTGTGT
| Name | NM_000492.4:c.1210-289_1210-276dup14 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117188406_117188419dup UCSC |
| #Exon/intron | intron 9 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | TGTGTGTGTGTGTGTGTGTGTGTGT -------------- ATGTGTATGTATACATGTATGTATT |
| Mutant sequence | TGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT ATGTGTATGTATACATGTATGTATT |
| MAF (GnomAD) | 7.30e-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 | 5 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 3
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | homozygous | PASS | 11700 | 29 |
| 21 | CF | Montpellier | 150517_varilh | heterozygous | PASS | 499 | 53 |
| 5 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 784 | 52 |
| 9 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 1043 | 79 |
| MUC10197 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 720 | 90 |
