rs367605291

This variant is located in the L3MBTL3 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

About L3MBTL3

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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