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CFTR-NGS variants catalogue
Variant hg19:chr7:117304459T/C
| Name | NM_000492.4:c.3964-283T>C |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117304459T>C UCSC gnomAD |
| #Exon/intron | intron 24 |
| Legacy Name | 4096-283T/C |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| Patients reported in CFTR-NGS, carrying this variant also carry: |