catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117120141G/C


CFTR-NGS Variant details:
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: