BRAT1, BRCA1 associated ATM activator 1, 221927

N. diseases: 61; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307958
rs1085307958
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.800 GeneticVariation UNIPROT
dbSNP: rs1085307958
rs1085307958
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		G 0.800 CausalMutation CLINVAR
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1. 28635423 2017
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. 27282648 2016
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		CT 0.700 CausalMutation CLINVAR Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient. 26947546 2016
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR BRAT1 mutations present with a spectrum of clinical severity. 27282546 2016
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings. 27480663 2016
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR BRAT1-related disease--identification of a patient without early lethality. 26494257 2016
dbSNP: rs749240175
rs749240175
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		C 0.700 CausalMutation CLINVAR BRAT1 mutations present with a spectrum of clinical severity. 27282546 2016
dbSNP: rs776913277
rs776913277
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		GT 0.700 CausalMutation CLINVAR BRAT1-related disease--identification of a patient without early lethality. 26494257 2016
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		CT 0.700 CausalMutation CLINVAR Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 26535877 2015
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 26535877 2015
dbSNP: rs749240175
rs749240175
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		C 0.700 CausalMutation CLINVAR Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 25500575 2015
dbSNP: rs776913277
rs776913277
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		GT 0.700 CausalMutation CLINVAR Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? 26483087 2015
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		CT 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047 2012
dbSNP: rs794729222
rs794729222
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		T 0.700 CausalMutation CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047 2012
dbSNP: rs794729222
rs794729222
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs730880324
rs730880324
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR ATM activation by ionizing radiation requires BRCA1-associated BAAT1. 16452482 2006
dbSNP: rs1085307958
rs1085307958
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C4748032
Disease:
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 		0.700 GeneticVariation UNIPROT
dbSNP: rs1131691679
rs1131691679
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554293869
rs1554293869
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1554295159
rs1554295159
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554296088
rs1554296088
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
CUI: C3281029
Disease:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		GATCTTCTC 0.700 CausalMutation CLINVAR