Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 p.Arg132His (p.R132H)
(
ENST00000345146.7,
ENST00000415913.5,
ENST00000446179.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- Source Database
- ClinVar
- Description
- NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ClinVar Allele ID
- 166215
- ClinVar RefSeq Alternation Syntax
- NM_001282386.1:c.395G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282387.1:c.395G>A
- ClinVar RefSeq Alternation Syntax
- NM_005896.4:c.395G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-11-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000853347
- ClinVar Disease
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- Observed Origin Sample
- germline
Drugs