| Variant ID | 7255 |
|---|---|
| Entrez Gene ID | 2638 |
| Gene | GC (GeneCards) |
| Location | hg19 4:72651596-72651596
hg38 4:71785879-71785879 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.72651596 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.067 |
| CADD Raw score (version 1.3) | -0.022879 (Deleterious) |
| FATHMM raw prediction score | 0.07006 (Tolerated) |
| Deleterious probability by DeFine | 0.3193 (Neutral) |
| Entrez Gene ID | 2638 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GC (GeneCards) |
| Number of variants in GC in this database | 6 (view all the variants) |
| Full name | GC, vitamin D binding protein |
| Band | 4q13.3 |
| Other IDs | Vega: OTTHUMG00000129915 OMIM: 139200 HGNC: HGNC:4187 Ensembl: ENSG00000145321 |
| Other names | DBP, VDB, GRD3, VDBG, VDBP, GcMAF, DBP/GC, Gc-MAF, DBP-maf, HEL-S-51 |
| Summary | The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |