rs786204991

This is a variant in the CDKL5 gene that changes a arginine to an glycine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

CDKL5 disorder; Developmental and epileptic encephalopathy, 2 (DEE2)

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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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