Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Val166Gly (p.V166G)
(
ENST00000585489.1,
ENST00000592383.5,
ENST00000253801.7 )
G6PC1 p.Val166Gly (p.V166G) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Source Database
- ClinVar
- Description
- NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- ClinVar Allele ID
- 27049
- ClinVar RefSeq Alternation Syntax
- NM_001270397.2:c.420T>G
- ClinVar RefSeq Alternation Syntax
- NM_000151.4:c.497T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012790
- ClinVar Disease
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Observed Origin Sample
- germline
- Pubmed
- 9332655
Drugs