GNB4 Chromosome 3
G protein subunit beta 4
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What This Gene Does
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]
Gene Info
Gene Group
"WD repeat domain containing|G protein subunits beta"
Locus Type
gene with protein product
Location
3q26.33
Ensembl
ENSG00000114450
Associated Conditions (2)
Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases
Key Variants
RS138187021
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS1714292732
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS187082127
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200411099
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS377746889
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS751400013
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS758131126
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS764497524
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
Health Risk
RS775578986
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS776836938
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS1714805406
Likely pathogenic
Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
RS199615251
Likely pathogenic
Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138187021 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F |
| RS1714292732 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS187082127 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200411099 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F |
| RS377746889 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS751400013 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F |
| RS758131126 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F |
| RS764497524 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases |
| RS775578986 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F |
| RS776836938 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F |
| RS1714805406 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS199615251 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS387907340 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS1553851490 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS387907341 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |
| RS1714910248 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F |