| Variant ID | 12612 |
|---|---|
| Entrez Gene ID | 137868 |
| Gene | SGCZ (GeneCards) |
| Location | hg19 8:14164819-14164819
hg38 8:14307310-14307310 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.14164819 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5158 |
| CADD Raw score (version 1.3) | 0.514148 (Deleterious) |
| FATHMM raw prediction score | 0.57766 (Tolerated) |
| Deleterious probability by DeFine | 0.3439 (Neutral) |
| Entrez Gene ID | 137868 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SGCZ (GeneCards) |
| Number of variants in SGCZ in this database | 33 (view all the variants) |
| Full name | sarcoglycan zeta |
| Band | 8p22 |
| Other IDs | Vega: OTTHUMG00000090827 OMIM: 608113 HGNC: HGNC:14075 Ensembl: ENSG00000185053 |
| Other names | ZSG1 |
| Summary | The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [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; |