| Variant ID | 21697 |
|---|---|
| Entrez Gene ID | 49854 |
| Gene | ZBTB21 (GeneCards) |
| Location | hg19 21:43412973-43412973
hg38 21:41992864-41992864 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.43412973 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7823 |
| CADD Raw score (version 1.3) | 4.085712 (Deleterious) |
| FATHMM raw prediction score | 0.98568 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.395 (Deleterious) |
| PROVEAN score | -0.74 (Tolerated) |
| MetaSVM score | -1.213 (Tolerated) |
| MetaLR score | 0.078 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.826 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.393 |
| Deleterious probability by iFish2 | 0.6782 (Deleterious) |
| Deleterious probability by DeFine | 0.9592 (Deleterious) |
| Entrez Gene ID | 49854 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB21 (GeneCards) |
| Number of variants in ZBTB21 in this database | 3 (view all the variants) |
| Full name | zinc finger and BTB domain containing 21 |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000086789 OMIM: 616485 HGNC: HGNC:13083 Ensembl: ENSG00000173276 |
| Other names | ZNF295 |
| Summary | None |
| Individual ID | 29217584.12 (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; |