Annotation Detail
Information
- Associated Genes
- PGK1
- Associated Variants
-
PGK1 p.Asp285Val (p.D285V)
(
ENST00000373316.5,
ENST00000644362.1 )
PGK1 p.Asp285Val (p.D285V) ( ENST00000373316.5, ENST00000644362.1 ) - Associated Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Source Database
- ClinVar
- Description
- NM_000291.4(PGK1):c.854A>T (p.Asp285Val) AND Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ClinVar Allele ID
- 24990
- ClinVar RefSeq Alternation Syntax
- NM_000291.4:c.854A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010629
- ClinVar Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Observed Origin Sample
- unknown
- Pubmed
- 9744480
Drugs