rs1557175294
This variant is located in the FLNA gene.
▶ClinVar annotation
Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Frontometaphyseal dysplasia
View on ClinVar →About FLNA
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
View all FLNA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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