Annotation Detail
Information
- Associated Genes
- PGK1
- Associated Variants
-
PGK1 p.Asp268Asn (p.D268N)
(
ENST00000373316.5,
ENST00000644362.1 )
PGK1 p.Asp268Asn (p.D268N) ( ENST00000373316.5, ENST00000644362.1 ) - Associated Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Source Database
- ClinVar
- Description
- NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) AND Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ClinVar Allele ID
- 24981
- ClinVar RefSeq Alternation Syntax
- NM_000291.4:c.802G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1980-07-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010620
- ClinVar Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Observed Origin Sample
- germline
- Pubmed
- 6770677
- Pubmed
- 7391028
- Pubmed
- 411673
Drugs