Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
---|---|---|---|---|---|---|---|---|---|
TARDBP | 605078 | FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | TARDBP, LYS263GLU | rs267607102 | 1 | 11022196 | A | G | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A |
Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
---|---|---|---|---|---|---|---|---|---|
TARDBP | 605078 | FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | TARDBP, LYS263GLU | rs267607102 | 1 | 11022196 | A | G | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A |