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rs746476599

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

C

Alternative Allele

T

Chromosome

11

Location

65608341

Variant Type

SNP

Genes

  • MAP3K11

Phenotypes

  • Moyamoya angiopathy

ClinVar

Name

NM_002419.4(MAP3K11):c.847G>A (p.Ala283Thr)

Allele

T

Clinical Significance

Likely pathogenic

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