Variants
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rs1857290083

  • Pathogenic

Your Genotype

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Description

Reference Allele

T


Alternative Allele

G

Chromosome

11


Location

65718661


Variant Type

SNP

Genes

ClinVar

Name

NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala)


Allele

G


Clinical Significance

Pathogenic

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