| Variant ID | 12483 |
|---|---|
| Entrez Gene ID | 57623 |
| Gene | ZFAT (GeneCards) |
| Location | hg19 8:135513751-135513751
hg38 8:134501508-134501508 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.135513751 G>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0145 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs115823602 |
| EIGEN score | 0.1376 |
| CADD Raw score (version 1.3) | 0.244986 (Deleterious) |
| FATHMM raw prediction score | 0.13862 (Tolerated) |
| Deleterious probability by DeFine | 0.6016 (Deleterious) |
| Entrez Gene ID | 57623 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZFAT (GeneCards) |
| Number of variants in ZFAT in this database | 6 (view all the variants) |
| Full name | zinc finger and AT-hook domain containing |
| Band | 8q24.22 |
| Other IDs | Vega: OTTHUMG00000164321 OMIM: 610931 HGNC: HGNC:19899 Ensembl: ENSG00000066827 |
| Other names | AITD3, ZFAT1, ZNF406 |
| Summary | This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] |
| Individual ID | 29217584.15 (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; |