catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117177453A/AT


CFTR-NGS Variant details:
Name NM_000492.4:c.869+731dupT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117177458dup    UCSC    
#Exon/intron intron 7
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: