| Variant ID | 29127 |
|---|---|
| Entrez Gene ID | 4363 |
| Gene | ABCC1 (GeneCards) |
| Location | hg19 16:16230394-16230394
hg38 16:16136537-16136537 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.16230394 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200975492 |
| EIGEN score | 0.1524 |
| CADD Raw score (version 1.3) | 1.774583 (Deleterious) |
| FATHMM raw prediction score | 0.12589 (Tolerated) |
| Deleterious probability by DeFine | 0.8856 (Deleterious) |
| Entrez Gene ID | 4363 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC1 (GeneCards) |
| Number of variants in ABCC1 in this database | 2 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 1 |
| Band | 16p13.11 |
| Other IDs | Vega: OTTHUMG00000048267 OMIM: 158343 HGNC: HGNC:51 Ensembl: ENSG00000103222 |
| Other names | MRP, ABCC, GS-X, MRP1, ABC29 |
| 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012] |
| Individual ID | 28503910.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |