Variant NM_000492.4:c.1040G>T
Name | NM_000492.4:c.1040G>T |
Protein name | NP_000483.3:p.(Arg347Leu) |
Genomic name (hg19) | chr7:g.117180324G>T UCSC |
#Exon/intron | exon 8 |
Legacy Name | R347L |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | ACCATCTCATTCTGCATTGTTCTGC G CATGGCGGTCACTCGGCAATTTCCC |
Mutant sequence | ACCATCTCATTCTGCATTGTTCTGC T CATGGCGGTCACTCGGCAATTTCCC |
Not found | dbSNP rs77932196 |
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
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 4 |
---|---|
Asymptomatic compound heterozygote | 1 |
CF | 2 |
Pending (NBS) | 1 |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 2660 | heterozygote | CF-causing- Undef |
CF | 3532 | heterozygote | CF-causing - Trans |
Asymptomatic compound heterozygote | 4522 | heterozygote | VUS1 - Trans |
Pending (NBS) | 6099 | heterozygote | CF-causing - Trans |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
CFTR variants are clustered into five groups: |
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