Variants
Sign InSign Up

rs200970285

  • Conflicting interpretations of pathogenicity

Your Genotype

Sign In

Description

p.Ser415Ser 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 0.01% (5/66018) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs200970285).

Reference Allele

C


Alternative Allele

T

Chromosome

22


Location

37973651


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.1245G>A (p.Ser415=)


Allele

T


Clinical Significance

Conflicting interpretations of pathogenicity

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.