Variant NM_000492.4:c.580-92T>A
Name | NM_000492.4:c.580-92T>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117175210T>A UCSC gnomAD |
#Exon/intron | intron 5 |
Legacy Name | 712-92T/A |
Class | VUS |
Subclass | VUS1 |
WT sequence | CCACGAAGTGTTTGATCATATAAGC T CCTTTTACTTGCTTTCTTTCATATA |
Mutant sequence | CCACGAAGTGTTTGATCATATAAGC A CCTTTTACTTGCTTTCTTTCATATA |
Not found | dbSNP rs117548166 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 4 |
---|---|
CF | 1 |
CFTR-RD | 3
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Bronchiectasis | 693 | heterozygote | CF-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 805 | heterozygote | |
CBAVD | 4651 | heterozygote | VUS3- Undef CF-causing- Undef |
CF | 4629 | heterozygote | CF-causing- Undef 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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