| Variant ID | 29143 |
|---|---|
| Entrez Gene ID | 262 |
| Gene | AMD1 (GeneCards) |
| Location | hg19 6:111213267-111213267
hg38 6:110892064-110892064 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.111213267 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.058 |
| CADD Raw score (version 1.3) | 0.020942 (Deleterious) |
| FATHMM raw prediction score | 0.11607 (Tolerated) |
| Deleterious probability by DeFine | 0.6396 (Deleterious) |
| Entrez Gene ID | 262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AMD1 (GeneCards) |
| Number of variants in AMD1 in this database | 1 (view all the variants) |
| Full name | adenosylmethionine decarboxylase 1 |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015369 OMIM: 180980 HGNC: HGNC:457 Ensembl: ENSG00000123505 |
| Other names | AMD, SAMDC, ADOMETDC |
| Summary | This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013] |
| Individual ID | 28503910.20 (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; |