Variants
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rs763019569

  • Conflicting interpretations of pathogenicity

Your Genotype

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Description

p.Ser24Ser in exon 2 of SOX10: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/454 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs763019569).

Reference Allele

G


Alternative Allele

A

T

Chromosome

22


Location

37983713


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.72C>T (p.Ser24=)


Allele

A


Clinical Significance

Conflicting interpretations of pathogenicity

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