| Variant ID | 21582 |
|---|---|
| Entrez Gene ID | 266917 |
| Gene | D21S2088E (GeneCards) |
| Location | hg19 21:25093124-25093124
hg38 21:23720807-23720807 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.25093124 G>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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2941 |
| CADD Raw score (version 1.3) | -0.10914 (Deleterious) |
| FATHMM raw prediction score | 0.22611 (Tolerated) |
| Deleterious probability by DeFine | 0.4948 (Neutral) |
| Entrez Gene ID | 266917 (NCBI Gene) |
|---|---|
| Official Gene Symbol | D21S2088E (GeneCards) |
| Number of variants in D21S2088E in this database | 19 (view all the variants) |
| Full name | D21S2088E |
| Band | 21q21.2 |
| Other IDs | Ensembl: ENSG00000228592 |
| Other names | None |
| Summary | None |
| 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; |