rs371408686
- Uncertain significance
Your Genotype
Sign InDescription
The p.Asp476Asn variant in EYA1 has not been previously reported in individuals with hearing loss, but has been identified in 1/67644 of European chromosomes an d in 1/10580 of African chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs371408686). Although this variant has bee n seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Asp476Asn variant is uncertain.
Reference Allele
C
Alternative Allele
T
Chromosome
8
Location
71215663
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn)
Allele
T
Clinical Significance
Uncertain significance