CORO1A Chromosome 16
Coronin 1A
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What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
"WD repeat domain containing|Coronins"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000102879
Associated Conditions (5)
Severe combined immunodeficiency due to CORO1A deficiency
Autism spectrum disorder
CORO1A-related disorder
Severe combined immunodeficiency disease
Sinoatrial node disorder
Key Variants
RS2151062416
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CORO1A deficiency, Autism spectrum disorder, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS35967690
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CORO1A deficiency, CORO1A-related disorder, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS761205413
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS112728974
Likely pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS2151063274
Likely pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS2151063606
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS2543751507
Likely pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS2543751945
Likely pathogenic
Sinoatrial node disorder, Sinoatrial node disorder
Health Risk
RS2543756633
Likely pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS1213680890
Pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS2151063096
Pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
RS2543755846
Pathogenic
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2151062416 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CORO1A deficiency, Autism spectrum disorder, Severe combined immunodeficiency due to CORO1A deficiency |
| RS35967690 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CORO1A deficiency, CORO1A-related disorder, Severe combined immunodeficiency due to CORO1A deficiency |
| RS761205413 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS112728974 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS2151063274 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS2151063606 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2543751507 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS2543751945 | Health Risk | Likely pathogenic | Sinoatrial node disorder, Sinoatrial node disorder |
| RS2543756633 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS1213680890 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS2151063096 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS2543755846 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS397514755 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS606231246 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS606231256 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |