rs397517917
- Pathogenic
- Pathogenic/Likely pathogenic
Your Genotype
Sign InDescription
The 1361-1G>T variant in EYA1 has not been reported in the literature nor previo usly identified by our laboratory. However, the 1361-1G>T variant is predicted t o cause abnormal splicing because the nucleotide substitution occurs in the inva riant region of the splice consensus sequence. In summary, this variant meets ou r criteria to be classified as pathogenic.
Reference Allele
C
Alternative Allele
A
T
Chromosome
8
Location
71215729
Variant Type
SNP
Genes
ClinVar
Name
NM_000503.6(EYA1):c.1361-1G>T
Allele
A
Clinical Significance
Pathogenic
Name
NM_000503.6(EYA1):c.1361-1G>A
Allele
T
Clinical Significance
Pathogenic/Likely pathogenic