Variants
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rs730880025

  • Pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

Chromosome

2


Location

219250741


Variant Type

SNP

Genes

ClinVar

Name

NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)


Allele

A


Clinical Significance

Pathogenic

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