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CFTR-NGS variants catalogue
Variant hg19:chr7:117289331GATGT/G
| Name | NM_000492.4:c.3874-3564_3874-3561delATGT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117289332_117289335del UCSC |
| #Exon/intron | intron 23 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | ACATTTTAATAGAATTATACATGGG ATGT GTGTGTGTGTGTGTGTGTGTGTATA |
| Mutant sequence | ACATTTTAATAGAATTATACATGGG ---- GTGTGTGTGTGTGTGTGTGTGTATA |
| MAF (GnomAD) | 0.00e+00 |
| Splicing prediction (SpliceAI) | AG: 0.00 (0) AL: 0.00 (29) DG: 0.00 (0) DL: 0.00 (-12) |
 Not found |  Not found | dbSNP rs763216523 |  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 | 1 |
|---|---|
| CFTR-RD | 1
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