CFTR-NGS variants catalogue
Variant hg19:chr7:117235218T/A
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: |