Variants
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rs1809062554

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

T

Chromosome

8


Location

71215447


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_000503.6(EYA1):c.1537C>A (p.Leu513Met)


Allele

T


Clinical Significance

Likely pathogenic

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