| Variant ID | 21827 |
|---|---|
| Entrez Gene ID | 2847 |
| Gene | MCHR1 (GeneCards) |
| Location | hg19 22:41113334-41113334
hg38 22:40717330-40717330 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.41113334 C>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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1665 |
| CADD Raw score (version 1.3) | 0.746943 (Deleterious) |
| FATHMM raw prediction score | 0.13378 (Tolerated) |
| Deleterious probability by DeFine | 0.0823 (Neutral) |
| Entrez Gene ID | 2847 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MCHR1 (GeneCards) |
| Number of variants in MCHR1 in this database | 1 (view all the variants) |
| Full name | melanin concentrating hormone receptor 1 |
| Band | 22q13.2 |
| Other IDs | Vega: OTTHUMG00000150256 OMIM: 601751 HGNC: HGNC:4479 Ensembl: ENSG00000128285 |
| Other names | SLC1, GPR24, MCH1R, SLC-1, MCH-1R |
| Summary | The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008] |
| 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; |