| Variant ID | 21497 |
|---|---|
| Entrez Gene ID | 140733 |
| Gene | MACROD2 (GeneCards) |
| Location | hg19 20:15311598-15311598
hg38 20:15330952-15330952 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.15311598 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1123 |
| CADD Raw score (version 1.3) | -0.012283 (Deleterious) |
| FATHMM raw prediction score | 0.14261 (Tolerated) |
| Deleterious probability by DeFine | 0.8007 (Deleterious) |
| Entrez Gene ID | 140733 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MACROD2 (GeneCards) |
| Number of variants in MACROD2 in this database | 41 (view all the variants) |
| Full name | MACRO domain containing 2 |
| Band | 20p12.1 |
| Other IDs | Vega: OTTHUMG00000031919 OMIM: 611567 HGNC: HGNC:16126 Ensembl: ENSG00000172264 |
| Other names | C2orf133, C20orf133 |
| Summary | The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |