rs2473900767

This variant is located in the GNB4 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Charcot-Marie-Tooth disease dominant intermediate F

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About GNB4

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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