| Variant ID | 799 |
|---|---|
| Entrez Gene ID | 729627 |
| Gene | PRR23A (GeneCards) |
| Location | hg19 3:138724787-138724787
hg38 3:139005945-139005945 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.138724787 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 108 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.408 |
| CADD Raw score (version 1.3) | 0.327097 (Deleterious) |
| FATHMM raw prediction score | 0.0636 (Tolerated) |
| Deleterious probability by DeFine | 0.5529 (Deleterious) |
| Entrez Gene ID | 729627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRR23A (GeneCards) |
| Number of variants in PRR23A in this database | 1 (view all the variants) |
| Full name | proline rich 23A |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000160635 HGNC: HGNC:37172 Ensembl: ENSG00000206260 |
| Other names | None |
| 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; |