| Variant ID | 23366 |
|---|---|
| Entrez Gene ID | 401474 |
| Gene | SAMD12 (GeneCards) |
| Location | hg19 8:119349101-119349101
hg38 8:118336862-118336862 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.119349101 G>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0947 |
| CADD Raw score (version 1.3) | 0.465846 (Deleterious) |
| FATHMM raw prediction score | 0.23498 (Tolerated) |
| Deleterious probability by DeFine | 0.0403 (Neutral) |
| Entrez Gene ID | 401474 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SAMD12 (GeneCards) |
| Number of variants in SAMD12 in this database | 6 (view all the variants) |
| Full name | sterile alpha motif domain containing 12 |
| Band | 8q24.11-q24.12 |
| Other IDs | Vega: OTTHUMG00000059817 HGNC: HGNC:31750 Ensembl: ENSG00000177570 |
| Other names | None |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |