Variants
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rs766963456

  • Likely benign

Your Genotype

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Description

p.Pro239Pro 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 1/64150 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs766963456).

Reference Allele

G


Alternative Allele

C

T

Chromosome

22


Location

37974179


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.717C>G (p.Pro239=)


Allele

C


Clinical Significance

Likely benign

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