Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg703Cys (p.R703C)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Arg703Cys (p.R703C) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- Regional enteritis Blau syndrome
- Source Database
- ClinVar
- Description
- NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) AND multiple conditions
- ClinVar Allele ID
- 194494
- ClinVar RefSeq Alternation Syntax
- NM_001370466.1:c.2026C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293557.2:c.2026C>T
- ClinVar RefSeq Alternation Syntax
- NM_022162.3:c.2107C>T
- ClinVar RefSeq Alternation Syntax
- NR_163434.1:n.2091C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002517729
- ClinVar Disease
- Blau syndrome
- ClinVar Disease
- Regional enteritis
- Observed Origin Sample
- germline
Drugs