Variants
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rs753456807

  • Uncertain significance

Your Genotype

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Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30847471)

Reference Allele

C


Alternative Allele

T

Chromosome

10


Location

78009952


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln)


Allele

T


Clinical Significance

Uncertain significance

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