Variants
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rs1564624254

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

C

Chromosome

10


Location

78026148


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter)


Allele

C


Clinical Significance

Likely pathogenic

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