| Variant ID | 17878 |
|---|---|
| Entrez Gene ID | 10082 |
| Gene | GPC6 (GeneCards) |
| Location | hg19 13:93890732-93890732
hg38 13:93238479-93238479 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.93890732 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2169 |
| CADD Raw score (version 1.3) | 0.239105 (Deleterious) |
| FATHMM raw prediction score | 0.1352 (Tolerated) |
| Deleterious probability by DeFine | 0.0498 (Neutral) |
| Entrez Gene ID | 10082 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPC6 (GeneCards) |
| Number of variants in GPC6 in this database | 15 (view all the variants) |
| Full name | glypican 6 |
| Band | 13q31.3-q32.1 |
| Other IDs | Vega: OTTHUMG00000017205 OMIM: 604404 HGNC: HGNC:4454 Ensembl: ENSG00000183098 |
| Other names | OMIMD1 |
| Summary | The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016] |
| 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; |