| Variant ID | 825 |
|---|---|
| Entrez Gene ID | 9705 |
| Gene | ST18 (GeneCards) |
| Location | hg19 8:53025767-53025767
hg38 8:52113207-52113207 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.53025767 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1045 |
| Amino acid changes in protein | I > I |
| 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 |
|---|---|
| EIGEN score | 1.7832 |
| CADD Raw score (version 1.3) | 1.494078 (Deleterious) |
| FATHMM raw prediction score | 0.98184 (Tolerated) |
| Deleterious probability by DeFine | 0.9645 (Deleterious) |
| Entrez Gene ID | 9705 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ST18 (GeneCards) |
| Number of variants in ST18 in this database | 11 (view all the variants) |
| Full name | ST18, C2H2C-type zinc finger |
| Band | 8q11.23 |
| Other IDs | Vega: OTTHUMG00000164233 OMIM: 617155 HGNC: HGNC:18695 Ensembl: ENSG00000147488 |
| Other names | NZF3, ZNF387, ZC2H2C3, ZC2HC10 |
| Summary | None |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |