catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117234398T/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2491-586T>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117234398T>A    UCSC    gnomAD
#Exon/intron intron 14
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: