rs1191231647

This variant is located in the POGZ gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

About POGZ

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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