SMARCC2

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 male, age 11 with intellectual disability, absent speech, and a very happy disposition (read full description).

Date of Report

Nov 30, 2017

Full Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2

Location

Chromosome 12 (12q13.2)

Function

The SMARCC2 gene is involved in chromatin remodeling (Wang et al., 1996).

Database Links

GeneCards: SMARCC2

NCBI Gene: 6601

OMIM: 601734

UniProtKB/Swiss-Prot: Q8TAQ2

Clinical Significance

A change in this gene was identified in a UDN participant and other patients with similar symptoms (Machol et al. 2018).

Gene SMARCC2

Inheritance Pattern Autosomal dominant

Position (hg19) chr12:g.56566211C>A

Transcript NM_003075.3

DNA Change c.1833+1G>T

Protein Change N/A

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