Variants
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rs1481254965

  • Pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

C

Chromosome

8


Location

71211170


Variant Type

SNP

Genes

ClinVar

Name

NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)


Allele

A


Clinical Significance

Pathogenic

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