| Variant ID | 21963 |
|---|---|
| Entrez Gene ID | 9215 |
| Gene | LARGE (GeneCards) |
| Location | hg19 22:34476836-34476836
hg38 22:34080847-34080847 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.34476836 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0628 |
| CADD Raw score (version 1.3) | 0.079982 (Deleterious) |
| FATHMM raw prediction score | 0.139 (Tolerated) |
| Deleterious probability by DeFine | 0.4797 (Neutral) |
| Entrez Gene ID | 9215 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LARGE (GeneCards) |
| Number of variants in LARGE1 in this database | 33 (view all the variants) |
| Full name | LARGE xylosyl- and glucuronyltransferase 1 |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000150914 OMIM: 603590 HGNC: HGNC:6511 Ensembl: ENSG00000133424 |
| Other names | LARGE, MDC1D, MDDGA6, MDDGB6 |
| Summary | This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |