| Variant ID | 23151 |
|---|---|
| Entrez Gene ID | 2762 |
| Gene | GMDS (GeneCards) |
| Location | hg19 6:1872138-1872138
hg38 6:1871904-1871904 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.1872138 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4383 |
| CADD Raw score (version 1.3) | 0.68882 (Deleterious) |
| FATHMM raw prediction score | 0.35099 (Tolerated) |
| Deleterious probability by DeFine | 0.5986 (Deleterious) |
| Entrez Gene ID | 2762 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GMDS (GeneCards) |
| Number of variants in GMDS in this database | 8 (view all the variants) |
| Full name | GDP-mannose 4,6-dehydratase |
| Band | 6p25.3 |
| Other IDs | Vega: OTTHUMG00000016143 OMIM: 602884 HGNC: HGNC:4369 Ensembl: ENSG00000112699 |
| Other names | GMD, SDR3E1 |
| Summary | GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] |
| 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; |