| Variant ID | 19803 |
|---|---|
| Entrez Gene ID | 10349 |
| Gene | ABCA10 (GeneCards) |
| Location | hg19 17:67213597-67213597
hg38 17:69217456-69217456 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.67213597 T>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.461 |
| CADD Raw score (version 1.3) | -0.175239 (Deleterious) |
| FATHMM raw prediction score | 0.04814 (Tolerated) |
| Deleterious probability by DeFine | 0.1554 (Neutral) |
| Entrez Gene ID | 10349 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCA10 (GeneCards) |
| Number of variants in ABCA10 in this database | 4 (view all the variants) |
| Full name | ATP binding cassette subfamily A member 10 |
| Band | 17q24.3 |
| Other IDs | Vega: OTTHUMG00000164716 OMIM: 612508 HGNC: HGNC:30 Ensembl: ENSG00000154263 |
| Other names | EST698739 |
| Summary | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |