| Variant ID | 20209 |
|---|---|
| Entrez Gene ID | 4160 |
| Gene | MC4R (GeneCards) |
| Location | hg19 18:58270609-58270609
hg38 18:60603376-60603376 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.58270609 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0266 |
| CADD Raw score (version 1.3) | -0.245366 (Deleterious) |
| FATHMM raw prediction score | 0.12144 (Tolerated) |
| Deleterious probability by DeFine | 0.4069 (Neutral) |
| Entrez Gene ID | 4160 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MC4R (GeneCards) |
| Number of variants in MC4R in this database | 9 (view all the variants) |
| Full name | melanocortin 4 receptor |
| Band | 18q21.32 |
| Other IDs | Vega: OTTHUMG00000132766 OMIM: 155541 HGNC: HGNC:6932 Ensembl: ENSG00000166603 |
| Other names | None |
| Summary | The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010] |
| 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; |