Variants
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rs730880027

  • Pathogenic

Your Genotype

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Description

Reference Allele

C


Alternative Allele

T

Chromosome

2


Location

219250479


Variant Type

SNP

Genes

ClinVar

Name

NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)


Allele

T


Clinical Significance

Pathogenic

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