rs2141746050

This variant is located in the CHD2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not specified; Developmental and epileptic encephalopathy 94

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About CHD2

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct 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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