Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg459= (p.R459=)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Arg459= (p.R459=) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) AND not provided
- ClinVar Allele ID
- 341629
- ClinVar RefSeq Alternation Syntax
- NR_163434.1:n.1361C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370466.1:c.1296C>T
- ClinVar RefSeq Alternation Syntax
- NM_022162.3:c.1377C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293557.2:c.1296C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001812843
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs