| Variant ID | 1032 |
|---|---|
| Entrez Gene ID | 388228 |
| Gene | SBK1 (GeneCards) |
| Location | hg19 16:28331450-28331450
hg38 16:28320129-28320129 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.28331450 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 161 |
| Amino acid changes in protein | A > A |
| 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 |
|---|---|
| EIGEN score | 0.2878 |
| CADD Raw score (version 1.3) | 0.760485 (Deleterious) |
| FATHMM raw prediction score | 0.2209 (Tolerated) |
| Deleterious probability by DeFine | 0.6968 (Deleterious) |
| Entrez Gene ID | 388228 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SBK1 (GeneCards) |
| Number of variants in SBK1 in this database | 1 (view all the variants) |
| Full name | SH3 domain binding kinase 1 |
| Band | 16p12.1 |
| Other IDs | Vega: OTTHUMG00000166066 HGNC: HGNC:17699 Ensembl: ENSG00000188322 |
| Other names | SBK |
| Summary | None |
| Individual ID | 27788131.02 (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; |