| Variant ID | 5117 |
|---|---|
| Entrez Gene ID | 10777 |
| Gene | ARPP21 (GeneCards) |
| Location | hg19 3:36028246-36028246
hg38 3:35986754-35986754 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.36028246 C>T (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2197 |
| CADD Raw score (version 1.3) | -0.091481 (Deleterious) |
| FATHMM raw prediction score | 0.06549 (Tolerated) |
| Deleterious probability by DeFine | 0.2571 (Neutral) |
| Entrez Gene ID | 10777 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARPP21 (GeneCards) |
| Number of variants in ARPP21 in this database | 14 (view all the variants) |
| Full name | cAMP regulated phosphoprotein 21 |
| Band | 3p22.3 |
| Other IDs | Vega: OTTHUMG00000130795 OMIM: 605488 HGNC: HGNC:16968 Ensembl: ENSG00000172995 |
| Other names | RCS, TARPP, R3HDM3, ARPP-21 |
| Summary | This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] |
| Individual ID | 29217584.09 (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; |