Variant ID | 17443 |
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Entrez Gene ID | 2262 |
Gene | GPC5 (GeneCards) |
Location | hg19 13:92889380-92889380
hg38 13:92237127-92237127 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000013.10:g.92889380 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | -0.1998 |
CADD Raw score (version 1.3) | -0.076987 (Deleterious) |
FATHMM raw prediction score | 0.09387 (Tolerated) |
Deleterious probability by DeFine | 0.5375 (Deleterious) |
Entrez Gene ID | 2262 (NCBI Gene) |
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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 | 29217584.09 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217584 |
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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; |