Variant NM_000492.4:c.25dup
Name | NM_000492.4:c.25dup |
Protein name | NP_000483.3:p.(Ala9Glyfs*36) |
Genomic name (hg19) | chr7:g.117120173dup UCSC |
#Exon/intron | exon 1 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | ATGCAGAGGTCGCCTCTGGAAAAGG - CCAGCGTTGTCTCCAAACTTTTTTT |
Mutant sequence | ATGCAGAGGTCGCCTCTGGAAAAGG G CCAGCGTTGTCTCCAAACTTTTTTT |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 2 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 1248 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CF | 2761 | heterozygote | CF-causing - Trans |
CF | 2883 | heterozygote | CF-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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