catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117173455T/G


CFTR-NGS Variant details:
Name NM_000492.4:c.490-875T>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117173455T>G    UCSC    gnomAD
#Exon/intron intron 4
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: