| Variant ID | 22309 |
|---|---|
| Entrez Gene ID | 347344 |
| Gene | ZNF81 (GeneCards) |
| Location | hg19 X:47790038-47790038
hg38 X:47930639-47930639 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.47790038 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.309939 (Deleterious) |
| FATHMM raw prediction score | 0.06008 (Tolerated) |
| Deleterious probability by DeFine | 0.1465 (Neutral) |
| Entrez Gene ID | 347344 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF81 (GeneCards) |
| Number of variants in ZNF81 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 81 |
| Band | Xp11.23 |
| Other IDs | Vega: OTTHUMG00000021462 OMIM: 314998 HGNC: HGNC:13156 Ensembl: ENSG00000197779 |
| Other names | HFZ20, MRX45, dJ54B20.6 |
| Summary | This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017] |
| 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; |