catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117158108AGTT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.273+8918_273+8920delTGT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117158114_117158116del    UCSC    
#Exon/intron intron 3
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: