| Variant ID | 28467 |
|---|---|
| Entrez Gene ID | 933 |
| Gene | CD22 (GeneCards) |
| Location | hg19 19:35840237-35840237
hg38 19:35349334-35349334 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000019.9:g.35840237 C>T (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.0977 |
| CADD Raw score (version 1.3) | 0.097266 (Deleterious) |
| FATHMM raw prediction score | 0.10023 (Tolerated) |
| Deleterious probability by DeFine | 0.8455 (Deleterious) |
| Entrez Gene ID | 933 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CD22 (GeneCards) |
| Number of variants in CD22 in this database | 3 (view all the variants) |
| Full name | CD22 molecule |
| Band | 19q13.12 |
| Other IDs | Vega: OTTHUMG00000183298 OMIM: 107266 HGNC: HGNC:1643 Ensembl: ENSG00000012124 |
| Other names | SIGLEC2, SIGLEC-2 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |