Variant NM_000492.4:c.769G>T
Name | NM_000492.4:c.769G>T |
Protein name | NP_000483.3:p.(Glu257*) |
Genomic name (hg19) | chr7:g.117176627G>T UCSC gnomAD |
#Exon/intron | exon 7 |
Legacy Name | E257X |
Class | disease-causing |
WT sequence | AGATCAGAGAGCTGGGAAGATCAGT G AAAGACTTGTGATTACCTCAGAAAT |
Mutant sequence | AGATCAGAGAGCTGGGAAGATCAGT T AAAGACTTGTGATTACCTCAGAAAT |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 5325 | heterozygote | VUS3 - Cis varying clinical consequence - Trans VUS3 - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|