catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117126950G/GGAGA


CFTR-NGS Variant details:
Name NM_000492.4:c.53+6768_53+6771dupGAGA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117126969_117126972dup    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: