BRAT1 Chromosome 7
BRCA1 associated ATM activator 1
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What This Gene Does
The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
Associated Conditions (13)
Neonatal-onset encephalopathy with rigidity and seizures
Inborn genetic diseases
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Intellectual disability
BRAT1-related disorder
Thyroid cancer
nonmedullary
1
Neurodevelopmental disorder
Familial cancer of breast
BRAT1-related neurodevelopmental disorder
Seizure
BRAT1-associated neurodegenerative disorder
Key Variants
RS1015313190
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS1250652407
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS1300644959
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS1404214519
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS140451075
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Inborn genetic diseases
Health Risk
RS140802292
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, BRAT1-related disorder
Health Risk
RS140833277
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, BRAT1-related disorder, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS140903769
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, BRAT1-related disorder
Health Risk
RS140943156
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS141726264
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS141807337
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, Neonatal-onset encephalopathy with rigidity and seizures
Health Risk
RS142129866
Conflicting classifications of pathogenicity
Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Inborn genetic diseases
Health Risk
All Variants (153)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554297097 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1562567814 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1562596651 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1778838576 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1778893542 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1778980785 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1779001773 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1779368057 | Health Risk | Pathogenic | — |
| RS1780257580 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1780259380 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS201855243 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2128384059 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2128386131 | Health Risk | Pathogenic | Seizure, Seizure |
| RS2128393384 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2128395588 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534285386 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534285722 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534286887 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534312390 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
| RS2534317013 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534318515 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534319250 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534344262 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534345446 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534352979 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534391979 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534414706 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534448374 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS727505363 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS727505364 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS727505365 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS746081291 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS749240175 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Inborn genetic diseases |
| RS754341393 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS755075934 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS760389988 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS762469913 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS773772842 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS775115309 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS869312931 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Inborn genetic diseases |
| RS906327946 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS961988900 | Health Risk | Pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1131691679 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1224820591 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1463777746 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, BRAT1-related disorder |
| RS149814450 | Health Risk | Pathogenic/Likely pathogenic | BRAT1-related disorder, Neonatal-onset encephalopathy with rigidity and seizures, BRAT1-related disorder |
| RS727505362 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Inborn genetic diseases |
| RS730880324 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
| RS756489141 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS759216914 | Health Risk | Pathogenic/Likely pathogenic | Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |