Variants
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rs281797259

  • Pathogenic

Your Genotype

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Description

Reference Allele

C


Alternative Allele

G

Chromosome

20


Location

10405464


Variant Type

SNP

Genes

ClinVar

Name

NM_170784.3(MKKS):c.1496G>C (p.Cys499Ser)


Allele

G


Clinical Significance

Pathogenic

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