| Variant ID | 1054 |
|---|---|
| Entrez Gene ID | 646643 |
| Gene | SBK2 (GeneCards) |
| Location | hg19 19:56041656-56041656
hg38 19:55530289-55530289 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.56041656 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 164 |
| Amino acid changes in protein | A > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6999 |
| CADD Raw score (version 1.3) | 2.816118 (Deleterious) |
| FATHMM raw prediction score | 0.10166 (Tolerated) |
| SIFT score | 0.728 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.977 (Tolerated) |
| MutatioinAssessor score | 0.77 (Tolerated) |
| PROVEAN score | -0.13 (Tolerated) |
| MetaSVM score | -0.964 (Tolerated) |
| MetaLR score | 0.143 (Tolerated) |
| MCAP score | 0.085 (Deleterious) |
| FitCons score | 0.696 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.169 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.021 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.822 |
| Deleterious probability by iFish2 | 0.0721 (Neutral) |
| Deleterious probability by DeFine | 0.8969 (Deleterious) |
| Entrez Gene ID | 646643 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SBK2 (GeneCards) |
| Number of variants in SBK2 in this database | 2 (view all the variants) |
| Full name | SH3 domain binding kinase family member 2 |
| Band | 19q13.42 |
| Other IDs | Vega: OTTHUMG00000155830 HGNC: HGNC:34416 Ensembl: ENSG00000187550 |
| Other names | SGK069 |
| 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; |