| Variant ID | 8693 |
|---|---|
| Entrez Gene ID | 337876 |
| Gene | CHSY3 (GeneCards) |
| Location | hg19 5:129469045-129469045
hg38 5:130133352-130133352 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.129469045 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.3048 |
| CADD Raw score (version 1.3) | -0.249864 (Deleterious) |
| FATHMM raw prediction score | 0.0599 (Tolerated) |
| Deleterious probability by DeFine | 0.4057 (Neutral) |
| Entrez Gene ID | 337876 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHSY3 (GeneCards) |
| Number of variants in CHSY3 in this database | 12 (view all the variants) |
| Full name | chondroitin sulfate synthase 3 |
| Band | 5q23.3 |
| Other IDs | Vega: OTTHUMG00000163043 OMIM: 609963 HGNC: HGNC:24293 Ensembl: ENSG00000198108 |
| Other names | CSS3, CHSY2 |
| Summary | CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.19 (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; |