| Variant ID | 1073 |
|---|---|
| Entrez Gene ID | 163882 |
| Gene | CNST (GeneCards) |
| Location | hg19 1:246811228-246811228
hg38 1:246647926-246647926 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.246811228 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 575 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6236 |
| CADD Raw score (version 1.3) | 0.888846 (Deleterious) |
| FATHMM raw prediction score | 0.20882 (Tolerated) |
| Deleterious probability by DeFine | 0.6604 (Deleterious) |
| Entrez Gene ID | 163882 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNST (GeneCards) |
| Number of variants in CNST in this database | 2 (view all the variants) |
| Full name | consortin, connexin sorting protein |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040090 OMIM: 613439 HGNC: HGNC:26486 Ensembl: ENSG00000162852 |
| Other names | C1orf71, PPP1R64 |
| Summary | Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |