catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188682GTT/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1210-7_1210-6delTT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117188688_117188689del    UCSC    
#Exon/intron intron 9
Legacy Name TG11T5
Type in CFTR-NGS catalogue TG-T
Class in CFTR-France VUS
Subclass VUS3
Patients reported in CFTR-NGS, carrying this variant also carry: