| Variant ID | 27793 |
|---|---|
| Entrez Gene ID | 23034 |
| Gene | SAMD4A (GeneCards) |
| Location | hg19 14:55261760-55261760
hg38 14:54795042-54795042 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000014.8:g.55261760 T>A (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2329 |
| CADD Raw score (version 1.3) | 0.488163 (Deleterious) |
| FATHMM raw prediction score | 0.3293 (Tolerated) |
| Deleterious probability by DeFine | 0.6173 (Deleterious) |
| Entrez Gene ID | 23034 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SAMD4A (GeneCards) |
| Number of variants in SAMD4A in this database | 4 (view all the variants) |
| Full name | sterile alpha motif domain containing 4A |
| Band | 14q22.2 |
| Other IDs | Vega: OTTHUMG00000170999 OMIM: 610747 HGNC: HGNC:23023 Ensembl: ENSG00000020577 |
| Other names | SMG, SMGA, SAMD4, SMAUG, SMAUG1 |
| Summary | Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |