CDHR3

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 the CDHR3 gene was identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.

Date of Report

Jun 05, 2023

Full Name

Cadherin-Related Family Member 3

Location

Chromosome 7 (7q22.3)

Function

The CDHR3 gene is involved in cell adhesion, epithelial polarity, cell-cell interaction, and differentiation (Bonnelykke et al., 2014).

Database Links

GeneCards: CDHR3

NCBI Gene: 169841

OMIM: 615610

UniProtKB/Swiss-Prot: Q6ZTQ4

Clinical Significance

A homozygous 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 CDHR3

Inheritance Pattern Unknown

Position (hg19) chr7:g.105624646C>A

Transcript NM_152750.5

DNA Change c.424C>A

Protein Change p.Leu142Ile

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