Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Gln347Ter (p.Q347*)
(
ENST00000253801.7,
ENST00000585489.1 )
G6PC1 p.Gln347Ter (p.Q347*) ( ENST00000253801.7, ENST00000585489.1 ) - Associated Disease
- glycogen storage disease
- Source Database
- ClinVar
- Description
- NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) AND Glycogen storage disease
- ClinVar Allele ID
- 27039
- ClinVar RefSeq Alternation Syntax
- NM_000151.4:c.1039C>T
- ClinVar RefSeq Alternation Syntax
- NM_001270397.2:c.*431C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-05-20
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001027894
- ClinVar Disease
- Glycogen storage disease
- Observed Origin Sample
- germline
Drugs