rs727503042
- Pathogenic
Your Genotype
Sign InDescription
The 1475+1G>C variant in EYA1 has been previously reported in one individual wit h Branchio-oto-renal syndrome (BOR) (Gigante 2013). This variant occurs in the i nvariant region (+/- 1/2) of the splice consensus sequence. Analysis of cDNA fro m the reported individual displayed aberrant splicing leading to exon 15 skippin g, which is predicted to lead to a truncated protein (Gigante 2013). In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.pa rtners.org/LMM).
Reference Allele
C
Alternative Allele
G
Chromosome
8
Location
71215613
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_000503.6(EYA1):c.1475+1G>C
Allele
G
Clinical Significance
Pathogenic