| Variant ID | 17655 |
|---|---|
| Entrez Gene ID | 10257 |
| Gene | ABCC4 (GeneCards) |
| Location | hg19 13:96020285-96020285
hg38 13:95368031-95368031 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.96020285 A>G (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2886 |
| CADD Raw score (version 1.3) | 0.295956 (Deleterious) |
| FATHMM raw prediction score | 0.08547 (Tolerated) |
| Deleterious probability by DeFine | 0.0893 (Neutral) |
| Entrez Gene ID | 10257 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC4 (GeneCards) |
| Number of variants in ABCC4 in this database | 4 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 4 |
| Band | 13q32.1 |
| Other IDs | Vega: OTTHUMG00000017216 OMIM: 605250 HGNC: HGNC:55 Ensembl: ENSG00000125257 |
| Other names | MRP4, MOATB, MOAT-B |
| Summary | The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] |
| Individual ID | 29217584.13 (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; |