Variants
Sign InSign Up

rs199750760

  • Benign/Likely benign

Your Genotype

Sign In

Description

p.Gly41Val in exon 2 of SOX10: This variant is not expected to have clinical sig nificance because it has been identified in 0.71% (118/4634) of East Asian chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs199750760). Additionally, this variant was reported as a polymorphi sm in a case-control study on Hirschsprung disease in the Han Chinese population (Pan 2011).

This variant is associated with the following publications: (PMID: 22008330, 30914325, 30936914)

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

Reference Allele

C


Alternative Allele

A

T

Chromosome

22


Location

37983663


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.122G>T (p.Gly41Val)


Allele

A


Clinical Significance

Benign/Likely benign

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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