| Variant ID | 13533 |
|---|---|
| Entrez Gene ID | 5253 |
| Gene | PHF2 (GeneCards) |
| Location | hg19 9:96465629-96465629
hg38 9:93703347-93703347 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.96465629 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | -0.2871 |
| CADD Raw score (version 1.3) | -0.059146 (Deleterious) |
| FATHMM raw prediction score | 0.08045 (Tolerated) |
| Deleterious probability by DeFine | 0.1488 (Neutral) |
| 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 | 29217584.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |