Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Gln242Ter (p.Q242*)
(
ENST00000585489.1,
ENST00000253801.7,
ENST00000592383.5 )
G6PC1 p.Gln242Ter (p.Q242*) ( 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.724C>T (p.Gln242Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- ClinVar Allele ID
- 33913
- ClinVar RefSeq Alternation Syntax
- NM_001270397.2:c.*116C>T
- ClinVar RefSeq Alternation Syntax
- NM_000151.4:c.724C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-09-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000239641
- ClinVar Disease
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs