Variants
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rs773196371

  • Likely benign

Your Genotype

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Description

p.His283His 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 1/8644 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs773196371).

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37974047


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.849C>T (p.His283=)


Allele

A


Clinical Significance

Likely benign

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