| Variant ID | 29136 |
|---|---|
| Entrez Gene ID | 169611 |
| Gene | OLFML2A (GeneCards) |
| Location | hg19 9:127549361-127549361
hg38 9:124787082-124787082 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000009.11:g.127549361 T>C (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 | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7951 |
| CADD Raw score (version 1.3) | -0.315241 (Deleterious) |
| FATHMM raw prediction score | 0.96147 (Tolerated) |
| Deleterious probability by DeFine | 0.884 (Deleterious) |
| Entrez Gene ID | 169611 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OLFML2A (GeneCards) |
| Number of variants in OLFML2A in this database | 1 (view all the variants) |
| Full name | olfactomedin like 2A |
| Band | 9q33.3 |
| Other IDs | Vega: OTTHUMG00000020663 OMIM: 615899 HGNC: HGNC:27270 Ensembl: ENSG00000185585 |
| Other names | PRO34319 |
| Summary | None |
| Individual ID | 28503910.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |