rs2529190447

This variant is located in the POGZ gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; Inborn genetic diseases; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

View on ClinVar →

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]

View all POGZ variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…