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: |