| Variant ID | 34252 |
|---|---|
| Entrez Gene ID | 127795 |
| Gene | C1orf87 (GeneCards) |
| Location | hg19 1:60470063-60470063
hg38 1:60004391-60004391 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000001.10:g.60470063 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003235 |
|---|---|
| EIGEN score | -0.1334 |
| CADD Raw score (version 1.3) | 0.045668 (Deleterious) |
| FATHMM raw prediction score | 0.11569 (Tolerated) |
| Deleterious probability by DeFine | 0.5417 (Deleterious) |
| Entrez Gene ID | 127795 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C1orf87 (GeneCards) |
| Number of variants in C1orf87 in this database | 11 (view all the variants) |
| Full name | chromosome 1 open reading frame 87 |
| Band | 1p32.1 |
| Other IDs | Vega: OTTHUMG00000008992 HGNC: HGNC:28547 Ensembl: ENSG00000162598 |
| Other names | CREF |
| 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; |