Variants
Sign InSign Up

rs779933527

  • Uncertain significance

Your Genotype

Sign In

Description

A heterozygous missense variation in exon 3 of the SOX10 gene that results in the amino acid substitution of Glutamine for Arginine at codon 215 was detected. The observed variant c.644G>A (p.Arg215Gln) has not been reported in the 1000 genomes and has a minor allele frequency of 0.007% in the gnomAD database. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

Reference Allele

C


Alternative Allele

T

Chromosome

22


Location

37977920


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.644G>A (p.Arg215Gln)


Allele

T


Clinical Significance

Uncertain significance

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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