Variant NM_000492.4:c.1658G>A
Name | NM_000492.4:c.1658G>A |
Protein name | NP_000483.3:p.(Arg553Gln) |
Genomic name (hg19) | chr7:g.117227866G>A UCSC gnomAD |
#Exon/intron | exon 12 |
Legacy Name | R553Q |
Class | VUS |
WT sequence | GGAATCACACTGAGTGGAGGTCAAC G AGCAAGAATTTCTTTAGCAAGGTGA |
Mutant sequence | GGAATCACACTGAGTGGAGGTCAAC A AGCAAGAATTTCTTTAGCAAGGTGA |
Not found | dbSNP rs121909044 |
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 |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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