Variant NM_000492.4:c.4439T>C
Name | NM_000492.4:c.4439T>C |
Protein name | NP_000483.3:p.(Leu1480Pro) |
Genomic name (hg19) | chr7:g.117307158T>C UCSC gnomAD |
#Exon/intron | exon 27 |
Legacy Name | L1480P |
Class | VUS |
Subclass | VUS3 |
WT sequence | GAAGAAGAGGTGCAAGATACAAGGC T TTAGAGAGCAGCATAAATGTTGACA |
Mutant sequence | GAAGAAGAGGTGCAAGATACAAGGC C TTAGAGAGCAGCATAAATGTTGACA |
dbSNP rs758818611 |
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 |
---|---|---|---|
Other | 4836 | heterozygote | CF-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|