rs1064790

This variant is located in the ACTB gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters2 publications

Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 1;Developmental malformations-deafness-dystonia syndrome

About ACTB

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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