| Variant ID | 12285 |
|---|---|
| Entrez Gene ID | 137735 |
| Gene | ABRA (GeneCards) |
| Location | hg19 8:107947014-107947014
hg38 8:106934786-106934786 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.107947014 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| EIGEN score | -0.1349 |
| CADD Raw score (version 1.3) | 0.254756 (Deleterious) |
| FATHMM raw prediction score | 0.11208 (Tolerated) |
| Deleterious probability by DeFine | 0.5296 (Deleterious) |
| Entrez Gene ID | 137735 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABRA (GeneCards) |
| Number of variants in ABRA in this database | 8 (view all the variants) |
| Full name | actin binding Rho activating protein |
| Band | 8q23.1 |
| Other IDs | Vega: OTTHUMG00000164809 OMIM: 609747 HGNC: HGNC:30655 Ensembl: ENSG00000174429 |
| Other names | STARS |
| Summary | None |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |