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CFTR-NGS variants catalogue
Variant hg19:chr7:117131853G/A
| Name | NM_000492.4:c.53+11652G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117131853G>A UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AAATAAGGTCACATCCTTAGGTACC G GGGGTTAGGACTCAAACATACCTTT |
| Mutant sequence | AAATAAGGTCACATCCTTAGGTACC A GGGGTTAGGACTCAAACATACCTTT |
| MAF (GnomAD) | 6.29e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (2) AL: 0.00 (-18) DG: 0.00 (3) DL: 0.00 (-6) |
 Not found |  Not found | dbSNP rs1003330100 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 1 |
|---|---|
| Asymptomatic | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| vd62 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 6373 | 465 |
