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CFTR-NGS variants catalogue
Variant hg19:chr7:117235055T/G
| Name | NM_000492.4:c.2562T>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117235055T>G UCSC gnomAD |
| #Exon/intron | exon 15 |
| Legacy Name | T854T (2694T/G) |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| Patients reported in CFTR-NGS, carrying this variant also carry: |