| Variant ID | 34431 |
|---|---|
| Entrez Gene ID | 23362 |
| Gene | PSD3 (GeneCards) |
| Location | hg19 8:18463514-18463514
hg38 8:18606004-18606004 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000008.10:g.18463514 G>A (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2799 |
| CADD Raw score (version 1.3) | 0.127145 (Deleterious) |
| FATHMM raw prediction score | 0.09702 (Tolerated) |
| Deleterious probability by DeFine | 0.065 (Neutral) |
| Entrez Gene ID | 23362 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PSD3 (GeneCards) |
| Number of variants in PSD3 in this database | 16 (view all the variants) |
| Full name | pleckstrin and Sec7 domain containing 3 |
| Band | 8p22 |
| Other IDs | Vega: OTTHUMG00000163711 OMIM: 614440 HGNC: HGNC:19093 Ensembl: ENSG00000156011 |
| Other names | EFA6D, EFA6R, HCA67 |
| Summary | None |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |