| Variant ID | 16115 |
|---|---|
| Entrez Gene ID | 10060 |
| Gene | ABCC9 (GeneCards) |
| Location | hg19 12:22105010-22105010
hg38 12:21952076-21952076 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.22105010 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3065 |
| CADD Raw score (version 1.3) | 0.250883 (Deleterious) |
| FATHMM raw prediction score | 0.12008 (Tolerated) |
| Deleterious probability by DeFine | 0.0996 (Neutral) |
| Entrez Gene ID | 10060 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC9 (GeneCards) |
| Number of variants in ABCC9 in this database | 5 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 9 |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000169094 OMIM: 601439 HGNC: HGNC:60 Ensembl: ENSG00000069431 |
| Other names | SUR2, ABC37, CANTU, CMD1O, ATFB12 |
| 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 protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] |
| 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; |