| Variant ID | 1191 |
|---|---|
| Entrez Gene ID | 285237 |
| Gene | C3ORF38 (GeneCards) |
| Location | hg19 3:88205377-88205377
hg38 3:88156227-88156227 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000003.11:g.88205377_88205377 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_173824.3 |
| mRNA length | 2782 |
| Reference length | 198022430 |
| Deleterious probability by DeFine | 0.9145 (Deleterious) |
|---|
| Entrez Gene ID | 285237 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C3ORF38 (GeneCards) |
| Number of variants in C3orf38 in this database | 18 (view all the variants) |
| Full name | chromosome 3 open reading frame 38 |
| Band | 3p11.1 |
| Other IDs | Vega: OTTHUMG00000155752 HGNC: HGNC:28384 Ensembl: ENSG00000179021 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.36 (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; |