catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117289332ATG/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3874-3540_3874-3539delGT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117289356_117289357del    UCSC    
#Exon/intron intron 23
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: