| Variant ID | 29267 |
|---|---|
| Entrez Gene ID | 23705 |
| Gene | CADM1 (GeneCards) |
| Location | hg19 11:115102167-115102167
hg38 11:115231447-115231447 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.115102167 C>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.9809 |
| CADD Raw score (version 1.3) | 1.487113 (Deleterious) |
| FATHMM raw prediction score | 0.10233 (Tolerated) |
| Deleterious probability by DeFine | 0.8341 (Deleterious) |
| Entrez Gene ID | 23705 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CADM1 (GeneCards) |
| Number of variants in CADM1 in this database | 10 (view all the variants) |
| Full name | cell adhesion molecule 1 |
| Band | 11q23.3 |
| Other IDs | Vega: OTTHUMG00000168202 OMIM: 605686 HGNC: HGNC:5951 Ensembl: ENSG00000182985 |
| Other names | BL2, ST17, IGSF4, NECL2, RA175, TSLC1, IGSF4A, Necl-2, SYNCAM, sgIGSF, sTSLC-1, synCAM1 |
| Summary | None |
| Individual ID | 28503910.144 (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; |