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CFTR-NGS variants catalogue
Variant hg19:chr7:117120141G/C
| Name | NM_000492.4:c.-8G>C |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117120141G>C UCSC gnomAD |
| #Exon/intron | UTR 5 |
| Legacy Name | 125G/C |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| Patients reported in CFTR-NGS, carrying this variant also carry: |