rs2147031368

This variant is located in the CECR2 gene.

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ClinVar annotation

Conflicting Classifications

2 submitters1 publication

CECR2-related neurodevelopmental disorder; See cases

About CECR2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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