| Variant ID | 34600 |
|---|---|
| Entrez Gene ID | 51493 |
| Gene | C22orf28 (GeneCards) |
| Location | hg19 22:32789418-32789418
hg38 22:32393431-32393431 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000022.10:g.32789418 T>C (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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.0059 |
| CADD Raw score (version 1.3) | 0.2587 (Deleterious) |
| FATHMM raw prediction score | 0.12091 (Tolerated) |
| Deleterious probability by DeFine | 0.5189 (Deleterious) |
| Entrez Gene ID | 51493 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C22orf28 (GeneCards) |
| Number of variants in RTCB in this database | 4 (view all the variants) |
| Full name | RNA 2',3'-cyclic phosphate and 5'-OH ligase |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000030300 OMIM: 613901 HGNC: HGNC:26935 Ensembl: ENSG00000100220 |
| Other names | FAAP, HSPC117, C22orf28, DJ149A16.6 |
| 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; |