catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117235218T/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2619+106T>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117235218T>A    UCSC    gnomAD
#Exon/intron intron 15
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Patients reported in CFTR-NGS, carrying this variant also carry: