catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117197031T/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-2487T>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117197031T>A    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: