| Variant ID | 812 |
|---|---|
| Entrez Gene ID | 360023 |
| Gene | ZBTB41 (GeneCards) |
| Location | hg19 1:197168593-197168593
hg38 1:197199463-197199463 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.197168593 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 337 |
| Amino acid changes in protein | A > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8843 |
| CADD Raw score (version 1.3) | -0.108468 (Deleterious) |
| FATHMM raw prediction score | 0.19507 (Tolerated) |
| Deleterious probability by DeFine | 0.6078 (Deleterious) |
| Entrez Gene ID | 360023 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB41 (GeneCards) |
| Number of variants in ZBTB41 in this database | 1 (view all the variants) |
| Full name | zinc finger and BTB domain containing 41 |
| Band | 1q31.3 |
| Other IDs | Vega: OTTHUMG00000036275 HGNC: HGNC:24819 Ensembl: ENSG00000177888 |
| Other names | FRBZ1, ZNF924 |
| 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; |