| Variant ID | 19368 |
|---|---|
| Entrez Gene ID | 342357 |
| Gene | ZKSCAN2 (GeneCards) |
| Location | hg19 16:25567840-25567840
hg38 16:25556519-25556519 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.25567840 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs139769640 |
| EIGEN score | -0.293 |
| CADD Raw score (version 1.3) | 0.262672 (Deleterious) |
| FATHMM raw prediction score | 0.15633 (Tolerated) |
| Deleterious probability by DeFine | 0.2983 (Neutral) |
| Entrez Gene ID | 342357 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZKSCAN2 (GeneCards) |
| Number of variants in ZKSCAN2 in this database | 6 (view all the variants) |
| Full name | zinc finger with KRAB and SCAN domains 2 |
| Band | 16p12.1 |
| Other IDs | Vega: OTTHUMG00000177180 HGNC: HGNC:25677 Ensembl: ENSG00000155592 |
| Other names | ZNF694, ZSCAN31, ZSCAN34 |
| 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; |