CFTR-NGS variants catalogue

Variant hg19:chr7:117141830C/A

CFTR-NGS Variant details:

Name	NM_000492.4:c.54-2477C>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117141830C>A    UCSC    gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
Class in CFTR-France	not reported
	Patients reported in CFTR-NGS, carrying this variant also carry: