| Variant ID | 925 |
|---|---|
| Entrez Gene ID | 5253 |
| Gene | PHF2 (GeneCards) |
| Location | hg19 9:96416697-96416697
hg38 9:93654415-93654415 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.96416697 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 264 |
| Amino acid changes in protein | G > G |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7929 |
| CADD Raw score (version 1.3) | 1.575631 (Deleterious) |
| FATHMM raw prediction score | 0.93544 (Tolerated) |
| Deleterious probability by DeFine | 0.9281 (Deleterious) |
| Entrez Gene ID | 5253 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PHF2 (GeneCards) |
| Number of variants in PHF2 in this database | 2 (view all the variants) |
| Full name | PHD finger protein 2 |
| Band | 9q22.31 |
| Other IDs | Vega: OTTHUMG00000020253 OMIM: 604351 HGNC: HGNC:8920 Ensembl: ENSG00000197724 |
| Other names | GRC5, KDM7C, JHDM1E, CENP-35 |
| Summary | This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008] |
| 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; |