Variants
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rs1572216329

  • Pathogenic

Your Genotype

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Description

Reference Allele

A


Alternative Allele

C

Chromosome

2


Location

5693074


Variant Type

SNP

Genes

ClinVar

Name

NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser)


Allele

C


Clinical Significance

Pathogenic

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