ADGRV1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a female, age 14, with ataxia and progressive myoclonic epilepsy (read full description).

Date of Report

Jun 21, 2019

Full Name

adhesion G protein-coupled receptor V1

Location

Chromosome 5 (5q14.3)

Function

The ADGRV1 gene is believed to play an important role in the development of the central nervous system (McMillan et al. 2002).

Database Links

GeneCards: ADGRV1

NCBI Gene: 84059

OMIM: 602851

UniProtKB/Swiss-Prot: Q8WXG9

Clinical Significance

A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Myers et al. 2018).

Gene ADGRV1

Inheritance Pattern Autosomal dominant

Position (hg19) chr5:g.90072377G>T

Transcript NM_032119.3

DNA Change c.12511G>T

Protein Change p.Gly4171Cys

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