| Variant ID | 1405 |
|---|---|
| Entrez Gene ID | 57189 |
| Gene | KIAA1147 (GeneCards) |
| Location | hg19 7:141364825-141364825
hg38 7:141665025-141665025 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000007.13:g.141364825_141364825 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_001080392.1 |
| mRNA length | 7296 |
| Reference length | 159138663 |
| Deleterious probability by DeFine | 0.8786 (Deleterious) |
|---|
| Entrez Gene ID | 57189 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIAA1147 (GeneCards) |
| Number of variants in KIAA1147 in this database | 3 (view all the variants) |
| Full name | KIAA1147 |
| Band | 7q34 |
| Other IDs | Vega: OTTHUMG00000157539 HGNC: HGNC:29472 Ensembl: ENSG00000257093 |
| Other names | LCHN, PRO2561 |
| Summary | None |
| Individual ID | 28867142.27 (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; |