Variant NM_000492.4:c.3222T>A
Name | NM_000492.4:c.3222T>A |
Protein name | NP_000483.3:p.(Phe1074Leu) |
Genomic name (hg19) | chr7:g.117251717T>A UCSC gnomAD |
#Exon/intron | exon 20 |
Legacy Name | F1074L |
Class | VUS |
Subclass | VUS4 |
WT sequence | GTGCCTTCGGACGGCAGCCTTACTT T GAAACTCTGTTCCACAAAGCTCTGA |
Mutant sequence | GTGCCTTCGGACGGCAGCCTTACTT A GAAACTCTGTTCCACAAAGCTCTGA |
dbSNP rs186045772 |
Reference | PMID | Splicing | mRNA level | Maturation | Localization | Channel fonction (Cl-) | Bicarbonate |
Van Goor et al, 2014 | 23891399 | ✓ | ✓ | ✓ |
« ✓ » indicates the type of analysis performed and not the results
Modulator | FDA approval | EMA approval | in vitro / ex vivo data | clinical data |
IVA | yes | no | yes | no |
TEZ-IVA | yes | no | yes | no |
ELX-TEZ-IVA | yes | no | yes | no |
clinical and functional data are provided by Vertex
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 529 | heterozygote | VUS3- Undef CF-causing- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|