Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 p.Arg132Cys (p.R132C)
(
ENST00000345146.7,
ENST00000446179.5,
ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- Enchondromatosis
- Source Database
- ClinVar
- Description
- NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Enchondromatosis
- ClinVar Allele ID
- 362770
- ClinVar RefSeq Alternation Syntax
- NM_001282387.1:c.394C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282386.1:c.394C>T
- ClinVar RefSeq Alternation Syntax
- NM_005896.4:c.394C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002227473
- ClinVar Disease
- Enchondromatosis
- Observed Origin Sample
- germline
Drugs