Variants
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rs1857071943

  • Pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

Chromosome

11


Location

65712931


Variant Type

SNP

Genes

ClinVar

Name

NM_182710.3(KAT5):c.257G>A (p.Arg86His)


Allele

A


Clinical Significance

Pathogenic

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