Variant NM_000492.4:c.-234T>A
Name | NM_000492.4:c.-234T>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117119915T>A UCSC gnomAD |
#Exon/intron | UTR 5 |
Legacy Name | -102T>A |
Class | VUS |
Subclass | VUS3 |
WT sequence | GGTGGAGAAAGCCGCTAGAGCAAAT T TGGGGCCGGACCAGGCAGCACTCGG |
Mutant sequence | GGTGGAGAAAGCCGCTAGAGCAAAT A TGGGGCCGGACCAGGCAGCACTCGG |
Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CF | 2 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 131 | heterozygote | CF-causing - Cis CF-causing - Trans |
CF | 392 | heterozygote | CF-causing - Cis varying clinical consequence - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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