rs2036187726

This variant is located in the GNAO1 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Early-infantile DEE

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About GNAO1

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

View all GNAO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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