Annotation Detail
Information
- Associated Genes
- PGK1
- Associated Variants
-
PGK1 p.Cys316Arg (p.C316R)
(
ENST00000373316.5,
ENST00000644362.1 )
PGK1 p.Cys316Arg (p.C316R) ( ENST00000373316.5, ENST00000644362.1 ) - Associated Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Source Database
- ClinVar
- Description
- NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) AND Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ClinVar Allele ID
- 24987
- ClinVar RefSeq Alternation Syntax
- NM_000291.4:c.946T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-05-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010626
- ClinVar Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Observed Origin Sample
- germline
- Pubmed
- 1586722
Drugs