Variant NM_000492.4:c.3230T>C
Name | NM_000492.4:c.3230T>C |
Protein name | NP_000483.3:p.(Leu1077Pro) |
Genomic name (hg19) | chr7:g.117251725T>C UCSC gnomAD |
#Exon/intron | exon 20 |
Legacy Name | L1077P |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | GGACGGCAGCCTTACTTTGAAACTC T GTTCCACAAAGCTCTGAATTTACAT |
Mutant sequence | GGACGGCAGCCTTACTTTGAAACTC C GTTCCACAAAGCTCTGAATTTACAT |
dbSNP rs139304906 |
Modulator | FDA approval | EMA approval | in vitro / ex vivo data | clinical data |
IVA | no | no | no | no |
TEZ-IVA | no | no | no | 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 | 4 |
---|---|
CF | 2 |
CFTR-RD | 1
|
Fetal bowel anomalies | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Fetal bowel anomalies | 917 | heterozygote | CF-causing - Trans |
CBAVD | 4824 | heterozygote | CFTR-RD-causing - Trans |
CF | 1584 | heterozygote | CF-causing - Trans |
CF | 2089 | heterozygote | CF-causing- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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