|
CFTR-NGS variants catalogue
Variant hg19:chr7:117296987C/G
| Name | NM_000492.4:c.3963+4002C>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117296987C>A UCSC gnomAD |
| #Exon/intron | intron 24 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AAACACTTACCCATTGAGTGCCCAA C CTTAACATGCCCCTAATAAAATGTA |
| Mutant sequence | AAACACTTACCCATTGAGTGCCCAA A CTTAACATGCCCCTAATAAAATGTA |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | AG: 0.00 (-35) AL: 0.00 (-50) DG: 0.00 (22) DL: 0.00 (-35) |
 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 | 2 |
|---|---|
| Asymptomatic | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m93 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 516 | 81 |
| MUCO07318 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1450 | 98 |
