RALGAPA1 Chromosome 14
Ral GTPase activating protein catalytic subunit alpha 1
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What This Gene Does
This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
Associated Conditions (5)
Inborn genetic diseases
Neurodevelopmental disorder with hypotonia
neonatal respiratory insufficiency
and thermodysregulation
Feeding difficulties
Key Variants
RS142660339
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2061566465
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
Health Risk
RS2141163058
Likely pathogenic
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Health Risk
RS2549631880
Likely pathogenic
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Health Risk
RS2550196133
Likely pathogenic
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Health Risk
RS1594642302
Pathogenic
Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
Health Risk
RS1594878619
Pathogenic
Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
Health Risk
RS1595085511
Pathogenic
Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
Health Risk
RS1595416752
Pathogenic
Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
Health Risk
RS1595446167
Pathogenic
Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
Health Risk
RS2141163549
Pathogenic
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Health Risk
RS2550073107
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142660339 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2061566465 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency |
| RS2141163058 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation |
| RS2549631880 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation |
| RS2550196133 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation |
| RS1594642302 | Health Risk | Pathogenic | Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency |
| RS1594878619 | Health Risk | Pathogenic | Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency |
| RS1595085511 | Health Risk | Pathogenic | Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency |
| RS1595416752 | Health Risk | Pathogenic | Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency |
| RS1595446167 | Health Risk | Pathogenic | Feeding difficulties, Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency |
| RS2141163549 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation |
| RS2550073107 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |