Variants
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rs1601887003

  • Likely benign

Your Genotype

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Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Reference Allele

T


Alternative Allele

C

G

Chromosome

22


Location

37983641


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.144A>C (p.Pro48=)


Allele

G


Clinical Significance

Likely benign

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