| Variant ID | 838 |
|---|---|
| Entrez Gene ID | 594855 |
| Gene | CPLX3 (GeneCards) |
| Location | hg19 15:75120417-75120417
hg38 15:74828076-74828076 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.75120417 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 69 |
| Amino acid changes in protein | R > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3527 |
| CADD Raw score (version 1.3) | 2.154348 (Deleterious) |
| FATHMM raw prediction score | 0.90882 (Tolerated) |
| Deleterious probability by DeFine | 0.8678 (Deleterious) |
| Entrez Gene ID | 594855 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPLX3 (GeneCards) |
| Number of variants in CPLX3 in this database | 2 (view all the variants) |
| Full name | complexin 3 |
| Band | 15q24.1 |
| Other IDs | Vega: OTTHUMG00000142816 OMIM: 609585 HGNC: HGNC:27652 Ensembl: ENSG00000213578 |
| Other names | CPXIII, CPX-III, Nbla11589 |
| 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; |