| Variant ID | 11344 |
|---|---|
| Entrez Gene ID | 3486 |
| Gene | IGFBP3 (GeneCards) |
| Location | hg19 7:46493150-46493150
hg38 7:46453552-46453552 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.46493150 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3004 |
| CADD Raw score (version 1.3) | 0.281009 (Deleterious) |
| FATHMM raw prediction score | 0.08912 (Tolerated) |
| Deleterious probability by DeFine | 0.0419 (Neutral) |
| Entrez Gene ID | 3486 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IGFBP3 (GeneCards) |
| Number of variants in IGFBP3 in this database | 29 (view all the variants) |
| Full name | insulin like growth factor binding protein 3 |
| Band | 7p12.3 |
| Other IDs | Vega: OTTHUMG00000023769 OMIM: 146732 HGNC: HGNC:5472 Ensembl: ENSG00000146674 |
| Other names | IBP3, BP-53 |
| Summary | This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |