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CFTR-NGS variants catalogue
Variant hg19:chr7:117188739T/C
| Name | NM_000492.4:c.1254T>C |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117188739T>C UCSC gnomAD |
| #Exon/intron | exon 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | AGAAAGCAAAACAAAACAATAACAA T AGAAAAACTTCTAATGGTGATGACA |
| Mutant sequence | AGAAAGCAAAACAAAACAATAACAA C AGAAAAACTTCTAATGGTGATGACA |
| MAF (GnomAD) | 0.00e+00 |
| Splicing prediction (SpliceAI) | AG: 0.01 (-44) AL: 0.00 (39) DG: 0.01 (16) DL: 0.00 (39) |
 Not found |  Not found | dbSNP rs62469440 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| not verified | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |
