rs1557582259

This variant is located in the RERE gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

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About RERE

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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