| Variant ID | 29922 |
|---|---|
| Entrez Gene ID | 933 |
| Gene | CD22 (GeneCards) |
| Location | hg19 19:35832660-35832660
hg38 19:35341757-35341757 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.35832660 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| EIGEN score | 0.6199 |
| CADD Raw score (version 1.3) | 0.045406 (Deleterious) |
| FATHMM raw prediction score | 0.41575 (Tolerated) |
| Deleterious probability by DeFine | 0.7335 (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 | 28867142.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |