| Variant ID | 12671 |
|---|---|
| Entrez Gene ID | 157310 |
| Gene | PEBP4 (GeneCards) |
| Location | hg19 8:22822392-22822392
hg38 8:22964879-22964879 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.22822392 C>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5808 |
| CADD Raw score (version 1.3) | -0.422443 (Deleterious) |
| FATHMM raw prediction score | 0.04157 (Tolerated) |
| Deleterious probability by DeFine | 0.1234 (Neutral) |
| Entrez Gene ID | 157310 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PEBP4 (GeneCards) |
| Number of variants in PEBP4 in this database | 5 (view all the variants) |
| Full name | phosphatidylethanolamine binding protein 4 |
| Band | 8p21.3 |
| Other IDs | Vega: OTTHUMG00000163749 OMIM: 612473 HGNC: HGNC:28319 Ensembl: ENSG00000134020 |
| Other names | CORK1, CORK-1, PEBP-4, hPEBP4, PRO4408, GWTM1933, HEL-S-300 |
| Summary | The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008] |
| 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; |