catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117198607C/CTAAA


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-878_1393-875dupTAAA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117198640_117198643dup    UCSC    
#Exon/intron intron 10
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: