rs368352689

This is a variant in the ACTB gene that changes a glutamate to an lysine.

▶

ClinVar annotation

Pathogenic

3 submitters4 publications

ACTB-associated syndromic thrombocytopenia (THC8); Baraitser-Winter syndrome 1 (BRWS1); Thrombocytopenia

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]

View all ACTB 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

Loading comments…