rs770876882
- Benign/Likely benign
Your Genotype
Sign InDescription
p.Ser578Ser in exon 17 of EYA1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (11/9788) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs150410083).
Reference Allele
C
Alternative Allele
T
Chromosome
8
Location
71199385
Variant Type
SNP
Genes
LOC105375894
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1734G>A (p.Ser578=)
Allele
T
Clinical Significance
Benign/Likely benign