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.

A change in this gene was identified in a female, age 32, with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes (read full description).

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: COL2A1

MedlinePlus Genetics: 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 this participant.

Gene COL2A1

Inheritance Pattern Autosomal dominant

Position (hg19) chr12:g.48383055C>T

Transcript NM_001844.4

DNA Change c.1078G>A

Protein Change p.Gly360Ser

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