| Variant ID | 10416 |
|---|---|
| Entrez Gene ID | 5260 |
| Gene | PHKG1 (GeneCards) |
| Location | hg19 7:56155196-56155196
hg38 7:56087503-56087503 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.56155196 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2153 |
| CADD Raw score (version 1.3) | 0.26954 (Deleterious) |
| FATHMM raw prediction score | 0.20453 (Tolerated) |
| Deleterious probability by DeFine | 0.7485 (Deleterious) |
| Entrez Gene ID | 5260 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PHKG1 (GeneCards) |
| Number of variants in PHKG1 in this database | 1 (view all the variants) |
| Full name | phosphorylase kinase catalytic subunit gamma 1 |
| Band | 7p11.2 |
| Other IDs | Vega: OTTHUMG00000023869 OMIM: 172470 HGNC: HGNC:8930 Ensembl: ENSG00000164776 |
| Other names | PHKG |
| Summary | This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
| 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; |