| Variant ID | 1016 |
|---|---|
| Entrez Gene ID | 55561 |
| Gene | CDC42BPG (GeneCards) |
| Location | hg19 11:64606613-64606613
hg38 11:64839141-64839141 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.64606613 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 256 |
| Amino acid changes in protein | Q > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.6274 |
| CADD Raw score (version 1.3) | 1.292223 (Deleterious) |
| FATHMM raw prediction score | 0.98689 (Tolerated) |
| Deleterious probability by DeFine | 0.9372 (Deleterious) |
| Entrez Gene ID | 55561 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDC42BPG (GeneCards) |
| Number of variants in CDC42BPG in this database | 2 (view all the variants) |
| Full name | CDC42 binding protein kinase gamma |
| Band | 11q13.1 |
| Other IDs | Vega: OTTHUMG00000045365 OMIM: 613991 HGNC: HGNC:29829 Ensembl: ENSG00000171219 |
| Other names | DMPK2, MRCKG, HSMDPKIN, KAPPA-200, MRCKgamma |
| 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; |