| Variant ID | 19703 |
|---|---|
| Entrez Gene ID | 64131 |
| Gene | XYLT1 (GeneCards) |
| Location | hg19 16:17527099-17527099
hg38 16:17433242-17433242 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.17527099 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0477 |
| CADD Raw score (version 1.3) | 0.266964 (Deleterious) |
| FATHMM raw prediction score | 0.16013 (Tolerated) |
| Deleterious probability by DeFine | 0.4373 (Neutral) |
| Entrez Gene ID | 64131 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XYLT1 (GeneCards) |
| Number of variants in XYLT1 in this database | 13 (view all the variants) |
| Full name | xylosyltransferase 1 |
| Band | 16p12.3 |
| Other IDs | Vega: OTTHUMG00000129975 OMIM: 608124 HGNC: HGNC:15516 Ensembl: ENSG00000103489 |
| Other names | XT1, XTI, XT-I, DBQD2, XYLTI, PXYLT1, xylT-I |
| Summary | This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009] |
| 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; |