FBN1

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

Nov 05, 2018

Full Name

fibrillin 1

Location
Chromosome 15q21.1


Function

The FBN1 gene codes for a protein involved in connective tissue distribution throughout the body (Sakai et al. 1986).

Database Links

GeneCards: GC15M048408

Genetics Home Reference: FBN1

NCBI Gene: 2200

OMIM: 134797

UniProtKB/Swiss-Prot: P35555

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 FBN1
Inheritance Pattern Autosomal dominant (maternally inherited)
Position Chr15: 48474558
Transcript NM_000138.4
DNA Change c.4057G>A
Protein Change p.G1353R
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!