| Variant ID | 29278 |
|---|---|
| Entrez Gene ID | 8755 |
| Gene | ADAM6 (GeneCards) |
| Location | hg19 14:106539261-106539261
hg38 14:NA-NA |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.106539261 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00004009 |
|---|---|
| EIGEN score | 0.0417 |
| CADD Raw score (version 1.3) | 8.329221 (Deleterious) |
| FATHMM raw prediction score | 0.85442 (Tolerated) |
| Deleterious probability by DeFine | 0.3974 (Neutral) |
| Entrez Gene ID | 8755 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAM6 (GeneCards) |
| Number of variants in ADAM6 in this database | 4 (view all the variants) |
| Full name | ADAM metallopeptidase domain 6 (pseudogene) |
| Band | 14q32.33 |
| Other IDs | HGNC: HGNC:213 Ensembl: ENSG00000271968 |
| Other names | tMDCIV, C14orf96 |
| Summary | None |
| Individual ID | 28503910.155 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |