| Variant ID | 21088 |
|---|---|
| Entrez Gene ID | 946 |
| Gene | SIGLEC6 (GeneCards) |
| Location | hg19 19:52042815-52042815
hg38 19:51539562-51539562 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.52042815 G>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| EIGEN score | -1.1184 |
| CADD Raw score (version 1.3) | -1.255115 (Deleterious) |
| FATHMM raw prediction score | 0.02452 (Tolerated) |
| Deleterious probability by DeFine | 0.1708 (Neutral) |
| Entrez Gene ID | 946 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIGLEC6 (GeneCards) |
| Number of variants in SIGLEC6 in this database | 2 (view all the variants) |
| Full name | sialic acid binding Ig like lectin 6 |
| Band | 19q13.41 |
| Other IDs | Vega: OTTHUMG00000133571 OMIM: 604405 HGNC: HGNC:10875 Ensembl: ENSG00000105492 |
| Other names | CD327, CD33L, OBBP1, CD33L1, CD33L2, CDW327 |
| Summary | This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia. [provided by RefSeq, Jul 2016] |
| 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; |