Annotation Detail
Information
- Associated Genes
- GLDC
- Associated Variants
-
GLDC p.Gly728Arg (p.G728R)
(
ENST00000321612.8,
ENST00000638661.1,
ENST00000639318.1 )
GLDC p.Gly728Arg (p.G728R) ( ENST00000321612.8, ENST00000638661.1, ENST00000639318.1 ) - Associated Disease
- Non-ketotic hyperglycinemia
- Source Database
- ClinVar
- Description
- NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg) AND Non-ketotic hyperglycinemia
- ClinVar Allele ID
- 70700
- ClinVar RefSeq Alternation Syntax
- NM_000170.3:c.2182G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000049470
- ClinVar Disease
- Non-ketotic hyperglycinemia
- Observed Origin Sample
- not provided
Drugs