| Variant ID | 2637 |
|---|---|
| Entrez Gene ID | 256435 |
| Gene | ST6GALNAC3 (GeneCards) |
| Location | hg19 1:76627616-76627616
hg38 1:76161931-76161931 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.76627616 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.258 |
| CADD Raw score (version 1.3) | 1.222635 (Deleterious) |
| FATHMM raw prediction score | 0.14846 (Tolerated) |
| Deleterious probability by DeFine | 0.7081 (Deleterious) |
| Entrez Gene ID | 256435 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ST6GALNAC3 (GeneCards) |
| Number of variants in ST6GALNAC3 in this database | 8 (view all the variants) |
| Full name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009615 OMIM: 610133 HGNC: HGNC:19343 Ensembl: ENSG00000184005 |
| Other names | STY, SIAT7C, PRO7177, ST6GALNACIII |
| Summary | ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.17 (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; |