| Variant ID | 19369 |
|---|---|
| Entrez Gene ID | 181 |
| Gene | AGRP (GeneCards) |
| Location | hg19 16:67521588-67521588
hg38 16:67487685-67487685 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.67521588 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2769 |
| CADD Raw score (version 1.3) | -0.03713 (Deleterious) |
| FATHMM raw prediction score | 0.08839 (Tolerated) |
| Deleterious probability by DeFine | 0.2465 (Neutral) |
| Entrez Gene ID | 181 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AGRP (GeneCards) |
| Number of variants in AGRP in this database | 1 (view all the variants) |
| Full name | agouti related neuropeptide |
| Band | 16q22.1 |
| Other IDs | Vega: OTTHUMG00000137509 OMIM: 602311 HGNC: HGNC:330 Ensembl: ENSG00000159723 |
| Other names | ART, AGRT, ASIP2 |
| Summary | This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009] |
| 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; |