rs373502990

This variant is located in the KDM4C gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Enchondromatosis

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About KDM4C

This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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