Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Gln27ArgfsTer9 (p.Q27Rfs*9)
(
ENST00000253801.7,
ENST00000592383.5,
ENST00000585489.1 )
G6PC1 p.Gln27ArgfsTer9 (p.Q27Rfs*9) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- G6PC1-related disorder
- Source Database
- ClinVar
- Description
- NM_000151.4(G6PC1):c.79del (p.Gln27fs) AND G6PC1-related disorder
- ClinVar Allele ID
- 33914
- ClinVar RefSeq Alternation Syntax
- NM_001270397.2:c.79del
- ClinVar RefSeq Alternation Syntax
- NM_000151.4:c.79del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003421926
- ClinVar Disease
- G6PC1-related disorder
- Observed Origin Sample
- germline
Drugs