| Variant ID | 1540 |
|---|---|
| Entrez Gene ID | 10418 |
| Gene | SPON1 (GeneCards) |
| Location | hg19 11:14156996-14156996
hg38 11:14135450-14135450 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000011.9:g.14156996_14156996 del (Genome Assembly: GRCh37) |
| 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_006108.3 |
| mRNA length | 5154 |
| Reference length | 135006516 |
| Deleterious probability by DeFine | 0.9394 (Deleterious) |
|---|
| Entrez Gene ID | 10418 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPON1 (GeneCards) |
| Number of variants in SPON1 in this database | 5 (view all the variants) |
| Full name | spondin 1 |
| Band | 11p15.2 |
| Other IDs | Vega: OTTHUMG00000181576 OMIM: 604989 HGNC: HGNC:11252 Ensembl: ENSG00000262655 |
| Other names | f-spondin, VSGP/F-spondin |
| Summary | None |
| Individual ID | 28235832.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |