Annotation Detail
Information
- Associated Genes
- PGK1
- Associated Variants
-
PGK1 p.Ile253Thr (p.I253T)
(
ENST00000373316.5,
ENST00000644362.1 )
PGK1 p.Ile253Thr (p.I253T) ( ENST00000373316.5, ENST00000644362.1 ) - Associated Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Source Database
- ClinVar
- Description
- NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) AND Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ClinVar Allele ID
- 24989
- ClinVar RefSeq Alternation Syntax
- NM_000291.4:c.758T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010628
- ClinVar Disease
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Observed Origin Sample
- germline
- Pubmed
- 9512313
- Pubmed
- 16671097
Drugs