rs770264648
- Likely benign
Your Genotype
Sign InDescription
p.Leu488Leu in exon 14 of EYA1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/66714 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs770264648).
Reference Allele
G
Alternative Allele
A
Chromosome
8
Location
71215625
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1464C>T (p.Leu488=)
Allele
A
Clinical Significance
Likely benign