| Variant ID | 7520 |
|---|---|
| Entrez Gene ID | 10087 |
| Gene | COL4A3BP (GeneCards) |
| Location | hg19 5:74731604-74731604
hg38 5:75435779-75435779 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.74731604 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4048 |
| CADD Raw score (version 1.3) | 0.138396 (Deleterious) |
| FATHMM raw prediction score | 0.07673 (Tolerated) |
| Deleterious probability by DeFine | 0.1604 (Neutral) |
| Entrez Gene ID | 10087 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL4A3BP (GeneCards) |
| Number of variants in COL4A3BP in this database | 4 (view all the variants) |
| Full name | collagen type IV alpha 3 binding protein |
| Band | 5q13.3 |
| Other IDs | Vega: OTTHUMG00000102068 OMIM: 604677 HGNC: HGNC:2205 Ensembl: ENSG00000113163 |
| Other names | CERT, GPBP, CERTL, MRD34, STARD11 |
| Summary | This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [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; |