| Variant ID | 15039 |
|---|---|
| Entrez Gene ID | 29068 |
| Gene | ZBTB44 (GeneCards) |
| Location | hg19 11:130263217-130263217
hg38 11:130393322-130393322 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.130263217 C>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.142733 (Deleterious) |
| FATHMM raw prediction score | 0.12113 (Tolerated) |
| Deleterious probability by DeFine | 0.3786 (Neutral) |
| Entrez Gene ID | 29068 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB44 (GeneCards) |
| Number of variants in ZBTB44 in this database | 1 (view all the variants) |
| Full name | zinc finger and BTB domain containing 44 |
| Band | 11q24.3 |
| Other IDs | Vega: OTTHUMG00000165769 HGNC: HGNC:25001 Ensembl: ENSG00000196323 |
| Other names | BTBD15, ZNF851, HSPC063 |
| 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; |