Variants
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rs1847583387

  • Pathogenic

Your Genotype

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Description

Reference Allele

C


Alternative Allele

T

Chromosome

10


Location

78021897


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter)


Allele

T


Clinical Significance

Pathogenic

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