| Variant ID | 14718 |
|---|---|
| Entrez Gene ID | 338596 |
| Gene | ST8SIA6 (GeneCards) |
| Location | hg19 10:17562046-17562046
hg38 10:17520047-17520047 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.17562046 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4867 |
| CADD Raw score (version 1.3) | -0.493022 (Deleterious) |
| FATHMM raw prediction score | 0.06079 (Tolerated) |
| Deleterious probability by DeFine | 0.698 (Deleterious) |
| Entrez Gene ID | 338596 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ST8SIA6 (GeneCards) |
| Number of variants in ST8SIA6 in this database | 5 (view all the variants) |
| Full name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
| Band | 10p12.33 |
| Other IDs | Vega: OTTHUMG00000017748 OMIM: 610139 HGNC: HGNC:23317 Ensembl: ENSG00000148488 |
| Other names | SIA8F, SIAT8F, SIAT8-F, ST8SiaVI, ST8SIA-VI |
| Summary | This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
| 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; |