| Variant ID | 1061 |
|---|---|
| Entrez Gene ID | 8908 |
| Gene | GYG2 (GeneCards) |
| Location | hg19 X:2761351-2761351
hg38 X:2843310-2843310 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.2761351 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 66 |
| Amino acid changes in protein | R > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 1.09214 (Deleterious) |
| FATHMM raw prediction score | 0.93532 (Tolerated) |
| Deleterious probability by DeFine | 0.6645 (Deleterious) |
| Entrez Gene ID | 8908 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GYG2 (GeneCards) |
| Number of variants in GYG2 in this database | 1 (view all the variants) |
| Full name | glycogenin 2 |
| Band | Xp22.33 |
| Other IDs | Vega: OTTHUMG00000021079 OMIM: 300198 HGNC: HGNC:4700 Ensembl: ENSG00000056998 |
| Other names | GN2, GN-2 |
| Summary | This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 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; |