Variants
Sign InSign Up

rs1555939491

  • Pathogenic

Your Genotype

Sign In

Description

The Q78X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we consider this variant to be pathogenic.

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37983553


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)


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.