RALA Chromosome 7
RAS like proto-oncogene A
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What This Gene Does
The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000006451
Associated Conditions (4)
Inborn genetic diseases
Hiatt-Neu-Cooper neurodevelopmental syndrome
Intellectual disability
Neurodevelopmental delay
Key Variants
RS954149915
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1792929407
Likely pathogenic
Health Risk
RS2116098601
Likely pathogenic
Health Risk
RS2116098682
Likely pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS2534033985
Likely pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS2534033999
Likely pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS2534049660
Likely pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS2534049677
Likely pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS1554297905
Pathogenic
Inborn genetic diseases, Hiatt-Neu-Cooper neurodevelopmental syndrome, Intellectual disability
Health Risk
RS2116098628
Pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS2116098885
Pathogenic
Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
Health Risk
RS2116098893
Pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS954149915 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1792929407 | Health Risk | Likely pathogenic | — |
| RS2116098601 | Health Risk | Likely pathogenic | — |
| RS2116098682 | Health Risk | Likely pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS2534033985 | Health Risk | Likely pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS2534033999 | Health Risk | Likely pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS2534049660 | Health Risk | Likely pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS2534049677 | Health Risk | Likely pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS1554297905 | Health Risk | Pathogenic | Inborn genetic diseases, Hiatt-Neu-Cooper neurodevelopmental syndrome, Intellectual disability |
| RS2116098628 | Health Risk | Pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS2116098885 | Health Risk | Pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome |
| RS2116098893 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |