| Variant ID | 20173 |
|---|---|
| Entrez Gene ID | 23531 |
| Gene | MMD (GeneCards) |
| Location | hg19 17:53530960-53530960
hg38 17:55453599-55453599 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.53530960 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2302 |
| CADD Raw score (version 1.3) | -0.008447 (Deleterious) |
| FATHMM raw prediction score | 0.08969 (Tolerated) |
| Deleterious probability by DeFine | 0.2193 (Neutral) |
| Entrez Gene ID | 23531 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MMD (GeneCards) |
| Number of variants in MMD in this database | 5 (view all the variants) |
| Full name | monocyte to macrophage differentiation associated |
| Band | 17q22 |
| Other IDs | Vega: OTTHUMG00000177845 OMIM: 604467 HGNC: HGNC:7153 Ensembl: ENSG00000108960 |
| Other names | MMA, MMD1, PAQR11 |
| Summary | This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |