catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117278790C/CATAA


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-3673_3718-3670dupATAA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117278819_117278822dup    UCSC    
#Exon/intron intron 22
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: