CAMTA1 Chromosome 1
Calmodulin binding transcription activator 1
Upload your DNA to see your personal genotypes for variants in CAMTA1.
What This Gene Does
The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"IPT domain containing|Calmodulin binding transcription activators "
Locus Type
gene with protein product
Location
1p36.31-p36.23
Ensembl
ENSG00000171735
Associated Conditions (9)
Inborn genetic diseases
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
CAMTA1-related disorder
Epilepsy
Intellectual disability
Malignant tumor of urinary bladder
Neurodevelopmental disorder
See cases
Neurodevelopmental abnormality
Key Variants
RS1174536251
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138288107
Conflicting classifications of pathogenicity
Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Health Risk
RS140089643
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142986673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143630062
Conflicting classifications of pathogenicity
CAMTA1-related disorder, Epilepsy, CAMTA1-related disorder
Health Risk
RS143700608
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143855619
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146626323
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147636995
Conflicting classifications of pathogenicity
Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Health Risk
RS200089323
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201816354
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS2096854165
Conflicting classifications of pathogenicity
Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Inborn genetic diseases, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776553769 | Health Risk | Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS863224853 | Health Risk | Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS886043243 | Health Risk | Likely pathogenic | — |
| RS1064795180 | Health Risk | Pathogenic | — |
| RS1085307743 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS1395631005 | Health Risk | Pathogenic | — |
| RS1553231167 | Health Risk | Pathogenic | — |
| RS1553238271 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553239242 | Health Risk | Pathogenic | — |
| RS1553240332 | Health Risk | Pathogenic | — |
| RS1553288266 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1576691273 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS1577313897 | Health Risk | Pathogenic | CAMTA1-related disorder, CAMTA1-related disorder |
| RS1577362553 | Health Risk | Pathogenic | — |
| RS1641438649 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS1666321359 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2095751954 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2095982231 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2095985353 | Health Risk | Pathogenic | — |
| RS2096780961 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2096785311 | Health Risk | Pathogenic | — |
| RS2096785839 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2096895734 | Health Risk | Pathogenic | — |
| RS2148504421 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2149156374 | Health Risk | Pathogenic | — |
| RS2149303084 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2149989087 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2523535823 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2523729567 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2523730625 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2523738693 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2523750276 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2523756100 | Health Risk | Pathogenic | — |
| RS2523757441 | Health Risk | Pathogenic | — |
| RS2523920375 | Health Risk | Pathogenic | CAMTA1-related disorder, CAMTA1-related disorder |
| RS2524124793 | Health Risk | Pathogenic | See cases, See cases |
| RS745738301 | Health Risk | Pathogenic | — |
| RS757970256 | Health Risk | Pathogenic | — |
| RS886041999 | Health Risk | Pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Inborn genetic diseases, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS1064796146 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS1553280067 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS2149303071 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2150160606 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Inborn genetic diseases, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS754008719 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
| RS886041635 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities |