Variants
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rs372400283

  • Uncertain significance

Your Genotype

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Description

The p.Asp64Val variant in SOX10 has not been previously reported in individuals with hearing loss, but has been identified in 1/53682 European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Asp64Val variant is uncertain.

Reference Allele

T


Alternative Allele

A

C

G

Chromosome

22


Location

37983594


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.191A>T (p.Asp64Val)


Allele

A


Clinical Significance

Uncertain significance

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