FLG

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 08, 2018

Full Name

filaggrin

Location
Chromosome 1 (1q21.3)


Function

The FLG gene codes for a protein found in skin cells (Genetics Home Reference).

Database Links

GeneCards: GC01M152274

Genetics Home Reference: FLG

NCBI Gene: 2312

OMIM: 135940

UniProtKB/Swiss-Prot: P20930

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 FLG
Inheritance Pattern Autosomal dominant (paternally inherited)
Position Chr1: 152280023
Transcript NM_002016.1
DNA Change c.7339C>T
Protein Change p.Arg2447Ter
Contact Us

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