rs763126633

This variant is located in the FILIP1 gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Neuromuscular disorder, congenital, with dysmorphic facies

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About FILIP1

This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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