catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117218575G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-9218G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117218575G>A    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
Patients reported in CFTR-NGS, carrying this variant also carry: