| Variant ID | 17154 |
|---|---|
| Entrez Gene ID | 6445 |
| Gene | SGCG (GeneCards) |
| Location | hg19 13:23802092-23802092
hg38 13:23227953-23227953 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.23802092 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1394 |
| CADD Raw score (version 1.3) | 0.502552 (Deleterious) |
| FATHMM raw prediction score | 0.16649 (Tolerated) |
| Deleterious probability by DeFine | 0.0533 (Neutral) |
| Entrez Gene ID | 6445 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SGCG (GeneCards) |
| Number of variants in SGCG in this database | 3 (view all the variants) |
| Full name | sarcoglycan gamma |
| Band | 13q12.12 |
| Other IDs | Vega: OTTHUMG00000016563 OMIM: 608896 HGNC: HGNC:10809 Ensembl: ENSG00000102683 |
| Other names | A4, MAM, DMDA, SCG3, 35DAG, DAGA4, DMDA1, LGMD2C, SCARMD2, gamma-SG |
| Summary | This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 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; |