Variants
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rs757373635

  • Likely benign

Your Genotype

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Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31996268)

Reference Allele

C


Alternative Allele

T

Chromosome

2


Location

219251158


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006000.3(TUBA4A):c.541G>A (p.Val181Met)


Allele

T


Clinical Significance

Likely benign

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