rs138539908

This variant is located in the CDKL5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Developmental and epileptic encephalopathy, 2;Angelman syndrome-like

About CDKL5

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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