Variants
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rs1396840386

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

C


Alternative Allele

A

Chromosome

20


Location

10407653


Variant Type

SNP

Genes

ClinVar

Name

NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)


Allele

A


Clinical Significance

Likely pathogenic

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