Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 p.Arg132Ser (p.R132S)
(
ENST00000446179.5,
ENST00000345146.7,
ENST00000415913.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) AND not provided
- ClinVar Allele ID
- 362772
- ClinVar RefSeq Alternation Syntax
- NM_001282387.1:c.394C>A
- ClinVar RefSeq Alternation Syntax
- NM_005896.4:c.394C>A
- ClinVar RefSeq Alternation Syntax
- NM_001282386.1:c.394C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003884519
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs