rs727503044
- Uncertain significance
Your Genotype
Sign InDescription
The Arg468Gly variant in EYA1 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. Additional information is n eeded to fully assess the clinical significance of the Arg468Gly variant.
Reference Allele
T
Alternative Allele
C
Chromosome
8
Location
71215687
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1402A>G (p.Arg468Gly)
Allele
C
Clinical Significance
Uncertain significance