rs550870195

This variant is located in the GNB4 gene.

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters1 publication

Charcot-Marie-Tooth disease dominant intermediate F; GNB4-related disorder

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]

View all GNB4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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