Variants
Sign InSign Up

rs367703283

  • Conflicting interpretations of pathogenicity
  • Uncertain significance

Your Genotype

Sign In

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

Reference Allele

T


Alternative Allele

C

G

Chromosome

16


Location

2088550


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)


Allele

C


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.