catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117292696G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3874-200G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117292696G>A    UCSC    gnomAD
#Exon/intron intron 23
Legacy Name 4006-200G/A
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
Patients reported in CFTR-NGS, carrying this variant also carry: