rs112593082
- Likely benign
Your Genotype
Sign InDescription
p.Ala459Ala in Exon 14 of EYA1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/10294 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs112593082).
Reference Allele
A
Alternative Allele
T
Chromosome
8
Location
71215712
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1377T>A (p.Ala459=)
Allele
T
Clinical Significance
Likely benign