Variant NM_000492.4:c.935_937del
Name | NM_000492.4:c.935_937del |
Protein name | NP_000483.3:p.(Phe312del) |
Genomic name (hg19) | chr7:g.117180219_117180221del UCSC |
#Exon/intron | exon 8 |
Legacy Name | ΔF311 |
Class | disease-causing |
WT sequence | TACTTCAATAGCTCAGCCTTCTTCT TCT CAGGGTTCTTTGTGGTGTTTTTATC |
Mutant sequence | TACTTCAATAGCTCAGCCTTCTTCT --- CAGGGTTCTTTGTGGTGTTTTTATC |
dbSNP rs121908768 |
Not found |
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 | 3 |
---|---|
CFTR-RD | 2
|
Pending (NBS) | 1 |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Other | 864 | heterozygote | CF-causing - Trans |
Other | 5806 | heterozygote | CF-causing- Undef |
Pending (NBS) | 5299 | heterozygote | CF-causing- Undef |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
CFTR variants are clustered into five groups: |
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