| Variant ID | 8998 |
|---|---|
| Entrez Gene ID | 4121 |
| Gene | MAN1A1 (GeneCards) |
| Location | hg19 6:119592265-119592265
hg38 6:119271100-119271100 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.119592265 T>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2265 |
| CADD Raw score (version 1.3) | -0.261671 (Deleterious) |
| FATHMM raw prediction score | 0.13183 (Tolerated) |
| Deleterious probability by DeFine | 0.4754 (Neutral) |
| Entrez Gene ID | 4121 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAN1A1 (GeneCards) |
| Number of variants in MAN1A1 in this database | 4 (view all the variants) |
| Full name | mannosidase alpha class 1A member 1 |
| Band | 6q22.31 |
| Other IDs | Vega: OTTHUMG00000015472 OMIM: 604344 HGNC: HGNC:6821 Ensembl: ENSG00000111885 |
| Other names | MAN9, HUMM3, HUMM9 |
| Summary | This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012] |
| 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; |