rs2033085976
This variant is located in the ANKRD11 gene.
▶ClinVar annotation
About ANKRD11
This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
View all ANKRD11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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