Variants
Sign InSign Up

rs727503043

  • Likely benign

Your Genotype

Sign In

Description

Thr475Thr in exon 14 of EYA1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.

Reference Allele

G


Alternative Allele

A

T

Chromosome

8


Location

71215664


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_000503.6(EYA1):c.1425C>T (p.Thr475=)


Allele

A


Clinical Significance

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.