Variants
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rs118204452

  • Pathogenic

Your Genotype

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Description

Reference Allele

A


Alternative Allele

G

Chromosome

2


Location

219157495


Variant Type

SNP

Genes

ClinVar

Name

NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg)


Allele

G


Clinical Significance

Pathogenic

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