| Variant ID | 1588 |
|---|---|
| Entrez Gene ID | 54925 |
| Gene | ZSCAN32 (GeneCards) |
| Location | hg19 16:3434733-3434733
hg38 16:3384733-3384733 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000016.9:g.3434733_3434733 del (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 | NM_017810.3 |
| mRNA length | 3076 |
| Reference length | 90354753 |
| Deleterious probability by DeFine | 0.8125 (Deleterious) |
|---|
| Entrez Gene ID | 54925 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZSCAN32 (GeneCards) |
| Number of variants in ZSCAN32 in this database | 2 (view all the variants) |
| Full name | zinc finger and SCAN domain containing 32 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000129357 HGNC: HGNC:20812 Ensembl: ENSG00000140987 |
| Other names | HCCS-5, ZNF434 |
| Summary | None |
| Individual ID | 28867142.40 (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; |