rs1475718221
- Pathogenic
Your Genotype
Sign InDescription
This sequence change creates a premature translational stop signal (p.Trp478*) in the EYA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EYA1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 10464653, 18220287). For these reasons, this variant has been classified as Pathogenic.
Reference Allele
C
Alternative Allele
A
T
Chromosome
8
Location
71215656
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)
Allele
T
Clinical Significance
Pathogenic