| Variant ID | 24093 |
|---|---|
| Entrez Gene ID | 56245 |
| Gene | C21orf62 (GeneCards) |
| Location | hg19 21:34385663-34385663
hg38 21:33013355-33013355 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000021.8:g.34385663 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0948 |
| CADD Raw score (version 1.3) | 0.922426 (Deleterious) |
| FATHMM raw prediction score | 0.72226 (Tolerated) |
| Deleterious probability by DeFine | 0.1971 (Neutral) |
| Entrez Gene ID | 56245 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C21orf62 (GeneCards) |
| Number of variants in C21orf62 in this database | 2 (view all the variants) |
| Full name | chromosome 21 open reading frame 62 |
| Band | 21q22.11 |
| Other IDs | Vega: OTTHUMG00000163477 HGNC: HGNC:1305 Ensembl: ENSG00000205929 |
| Other names | B37, PRED81, C21orf120 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |