COL2A1

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

Jun 08, 2018

Full Name

collagen type II alpha 1 chain

Location
chromosome 12 (12q13.11)


Function

The COL2A1 gene codes for a protein involved in making the type II component of collagen that strengthens connective tissue (Strom and Upholt, 1984).

Database Links

GeneCards: GC12M047972

Genetics Home Reference: COL2A1

NCBI Gene: 1280

OMIM: 120140

UniProtKB/Swiss-Prot: P02458

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 thisparticipant.

Gene COL2A1
Inheritance Pattern Autosomal dominant (maternally inherited)
Position Chr12: 48383055
Transcript NM_001844
DNA Change c.1078G>A
Protein Change p.G360S
Contact Us

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