Variants
Sign InSign Up

rs1569171175

  • Pathogenic

Your Genotype

Sign In

Description

The Q125X nonsense variant has not been published as a germline variant to our knowledge, and has only been observed as a somatic variant in a melanoma sample (Cronin et al., 2009). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37983412


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.373C>T (p.Gln125Ter)


Allele

A


Clinical Significance

Pathogenic

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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