|
CFTR-NGS variants catalogue
Variant hg19:chr7:117143718A/G
| Name | NM_000492.4:c.54-589A>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117143718A>G UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | VUS |
| Patients reported in CFTR-NGS, carrying this variant also carry: |