Variants
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rs147817756

  • Likely benign

Your Genotype

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Description

p.Thr375Thr in exon 4 of SOX10: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 59/65842 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs147817756).

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37973771


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.1125C>T (p.Thr375=)


Allele

A


Clinical Significance

Likely benign

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