| Variant ID | 11497 |
|---|---|
| Entrez Gene ID | 154664 |
| Gene | ABCA13 (GeneCards) |
| Location | hg19 7:48558664-48558664
hg38 7:48519068-48519068 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.48558664 G>A (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2376 |
| CADD Raw score (version 1.3) | 0.093813 (Deleterious) |
| FATHMM raw prediction score | 0.06895 (Tolerated) |
| Deleterious probability by DeFine | 0.1202 (Neutral) |
| Entrez Gene ID | 154664 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCA13 (GeneCards) |
| Number of variants in ABCA13 in this database | 17 (view all the variants) |
| Full name | ATP binding cassette subfamily A member 13 |
| Band | 7p12.3 |
| Other IDs | Vega: OTTHUMG00000155840 OMIM: 607807 HGNC: HGNC:14638 Ensembl: ENSG00000179869 |
| Other names | None |
| Summary | In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |