| Variant ID | 12845 |
|---|---|
| Entrez Gene ID | 55790 |
| Gene | CSGALNACT1 (GeneCards) |
| Location | hg19 8:19585317-19585317
hg38 8:19727806-19727806 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.19585317 T>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0775 |
| CADD Raw score (version 1.3) | 0.297514 (Deleterious) |
| FATHMM raw prediction score | 0.11983 (Tolerated) |
| Deleterious probability by DeFine | 0.5891 (Deleterious) |
| Entrez Gene ID | 55790 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CSGALNACT1 (GeneCards) |
| Number of variants in CSGALNACT1 in this database | 9 (view all the variants) |
| Full name | chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Band | 8p21.3 |
| Other IDs | Vega: OTTHUMG00000130827 OMIM: 616615 HGNC: HGNC:24290 Ensembl: ENSG00000147408 |
| Other names | ChGn, ChGn-1, CSGalNAcT-1, beta4GalNAcT |
| Summary | This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |