| Variant ID | 29223 |
|---|---|
| Entrez Gene ID | 2638 |
| Gene | GC (GeneCards) |
| Location | hg19 4:72629236-72629236
hg38 4:71763519-71763519 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000004.11:g.72629236 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 0.6017 |
| CADD Raw score (version 1.3) | 0.33509 (Deleterious) |
| FATHMM raw prediction score | 0.47731 (Tolerated) |
| Deleterious probability by DeFine | 0.8131 (Deleterious) |
| 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 | 28503910.100 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |