| Variant ID | 16116 |
|---|---|
| Entrez Gene ID | 55907 |
| Gene | CMAS (GeneCards) |
| Location | hg19 12:22340216-22340216
hg38 12:22187282-22187282 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.22340216 A>G (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2003 |
| CADD Raw score (version 1.3) | 0.581855 (Deleterious) |
| FATHMM raw prediction score | 0.26487 (Tolerated) |
| Deleterious probability by DeFine | 0.1424 (Neutral) |
| Entrez Gene ID | 55907 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CMAS (GeneCards) |
| Number of variants in CMAS in this database | 4 (view all the variants) |
| Full name | cytidine monophosphate N-acetylneuraminic acid synthetase |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000169097 OMIM: 603316 HGNC: HGNC:18290 Ensembl: ENSG00000111726 |
| Other names | CSS |
| Summary | This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |