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rs1259563970

  • Pathogenic

Your Genotype

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Description

Reference Allele

C

Alternative Allele

G

T

Chromosome

13

Location

39665114

Variant Type

SNP

Genes

  • COG6

  • MIR4305

Phenotypes

ClinVar

Name

NM_020751.3(COG6):c.388C>T (p.Gln130Ter)

Allele

T

Clinical Significance

Pathogenic

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