catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117252182C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3367+320C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117252182C>G    UCSC    gnomAD
#Exon/intron intron 20
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: