RAC1 Chromosome 7
Rac family small GTPase 1
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What This Gene Does
The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Rho family GTPases|Receptor ligands"
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000136238
Associated Conditions (7)
Inborn genetic diseases
Intellectual disability
autosomal dominant 48
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Global developmental delay
Neurodevelopmental delay
See cases
Key Variants
RS1782949423
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1783105291
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS1554263625
Likely pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS1554263626
Likely pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS1554264268
Likely pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS1783105049
Likely pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS2115201389
Likely pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS2115218501
Likely pathogenic
Health Risk
RS2534029459
Likely pathogenic
Health Risk
RS2534047485
Likely pathogenic
Health Risk
RS964265383
Likely pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
RS1554263326
Pathogenic
Intellectual disability, autosomal dominant 48, Intellectual disability
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1782949423 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1783105291 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS1554263625 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS1554263626 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS1554264268 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS1783105049 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2115201389 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2115218501 | Health Risk | Likely pathogenic | — |
| RS2534029459 | Health Risk | Likely pathogenic | — |
| RS2534047485 | Health Risk | Likely pathogenic | — |
| RS964265383 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS1554263326 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2115201406 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2115218399 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2534029561 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2534029571 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS1554263624 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 48, Global developmental delay |
| RS2115201430 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 48, Intellectual disability |
| RS2115201441 | Health Risk | Pathogenic/Likely pathogenic | See cases, Intellectual disability, autosomal dominant 48 |