NBEA

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.

Date of Report

May 22, 2018

Full Name

neurobeachin

Location
Chromosome 13 (13q13.3)


Function

The NBEA gene codes for proteins that bind and localize other proteins to the membrane of a cell (Trendelenburg et al., 1996).

Database Links

GeneCards: GC13P034942

NCBI Gene: 26960

OMIM: 604889

UniProtKB/Swiss-Prot: Q8NFP9

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene NBEA
Inheritance Pattern Unknown
Position Chr13: 35883725
Transcript NM_015678.4
DNA Change c.5899G>A
Protein Change p.Gly1967Arg
Contact Us

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