| Variant ID | 21055 |
|---|---|
| Entrez Gene ID | 9745 |
| Gene | ZNF536 (GeneCards) |
| Location | hg19 19:31149999-31149999
hg38 19:30659092-30659092 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.31149999 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3302 |
| CADD Raw score (version 1.3) | -0.339435 (Deleterious) |
| FATHMM raw prediction score | 0.09781 (Tolerated) |
| Deleterious probability by DeFine | 0.3928 (Neutral) |
| Entrez Gene ID | 9745 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF536 (GeneCards) |
| Number of variants in ZNF536 in this database | 14 (view all the variants) |
| Full name | zinc finger protein 536 |
| Band | 19q12 |
| Other IDs | Vega: OTTHUMG00000182112 OMIM: 618037 HGNC: HGNC:29025 Ensembl: ENSG00000198597 |
| Other names | None |
| Summary | The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015] |
| 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; |