| Variant ID | 21476 |
|---|---|
| Entrez Gene ID | 6614 |
| Gene | SIGLEC1 (GeneCards) |
| Location | hg19 20:3690363-3690363
hg38 20:3709716-3709716 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.3690363 C>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3003 |
| CADD Raw score (version 1.3) | -0.116498 (Deleterious) |
| FATHMM raw prediction score | 0.09618 (Tolerated) |
| Deleterious probability by DeFine | 0.466 (Neutral) |
| Entrez Gene ID | 6614 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIGLEC1 (GeneCards) |
| Number of variants in SIGLEC1 in this database | 1 (view all the variants) |
| Full name | sialic acid binding Ig like lectin 1 |
| Band | 20p13 |
| Other IDs | Vega: OTTHUMG00000031757 OMIM: 600751 HGNC: HGNC:11127 Ensembl: ENSG00000088827 |
| Other names | SN, CD169, SIGLEC-1, dJ1009E24.1 |
| Summary | This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 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; |