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rs752232501

  • Pathogenic

Your Genotype

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Description

Reference Allele

A

Alternative Allele

C

G

Chromosome

13

Location

39655727

Variant Type

SNP

Genes

  • COG6

Phenotypes

ClinVar

Name

NM_020751.3(COG6):c.1A>G (p.Met1Val)

Allele

G

Clinical Significance

Pathogenic

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