| Variant ID | 28411 |
|---|---|
| Entrez Gene ID | 284274 |
| Gene | SMIM21 (GeneCards) |
| Location | hg19 18:73832722-73832722
hg38 18:76120767-76120767 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000018.9:g.73832722 A>C (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2564 |
| CADD Raw score (version 1.3) | 0.057497 (Deleterious) |
| FATHMM raw prediction score | 0.1126 (Tolerated) |
| Deleterious probability by DeFine | 0.1562 (Neutral) |
| Entrez Gene ID | 284274 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMIM21 (GeneCards) |
| Number of variants in SMIM21 in this database | 7 (view all the variants) |
| Full name | small integral membrane protein 21 |
| Band | 18q23 |
| Other IDs | Vega: OTTHUMG00000179126 HGNC: HGNC:27598 Ensembl: ENSG00000206026 |
| Other names | C18orf62 |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |