| Variant ID | 17142 |
|---|---|
| Entrez Gene ID | 2262 |
| Gene | GPC5 (GeneCards) |
| Location | hg19 13:92950218-92950218
hg38 13:92297965-92297965 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.92950218 T>C (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 | -0.3107 |
| CADD Raw score (version 1.3) | 0.130971 (Deleterious) |
| FATHMM raw prediction score | 0.10404 (Tolerated) |
| Deleterious probability by DeFine | 0.1634 (Neutral) |
| Entrez Gene ID | 2262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPC5 (GeneCards) |
| Number of variants in GPC5 in this database | 20 (view all the variants) |
| Full name | glypican 5 |
| Band | 13q31.3 |
| Other IDs | Vega: OTTHUMG00000017200 OMIM: 602446 HGNC: HGNC:4453 Ensembl: ENSG00000179399 |
| Other names | None |
| Summary | Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |