Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Gly188Arg (p.G188R)
(
ENST00000253801.7,
ENST00000592383.5,
ENST00000585489.1 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) AND not provided
- ClinVar Allele ID
- 27047
- ClinVar RefSeq Alternation Syntax
- NM_001270397.2:c.485G>C
- ClinVar RefSeq Alternation Syntax
- NM_000151.4:c.562G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723560
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs