Variant NM_000492.4:c.-4G>C
Name | NM_000492.4:c.-4G>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117120145G>C UCSC gnomAD |
#Exon/intron | UTR 5 |
Legacy Name | 129G/C |
Class | VUS |
Subclass | VUS3 |
WT sequence | CTAGCAGGGACCCCAGCGCCCGAGA G ACCATGCAGAGGTCGCCTCTGGAAA |
Mutant sequence | CTAGCAGGGACCCCAGCGCCCGAGA C ACCATGCAGAGGTCGCCTCTGGAAA |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CF | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 4418 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef CFTR-RD-causing- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|