Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg703Gly (p.R703G)
(
ENST00000300589.6,
ENST00000647318.2 )
NOD2 p.Arg703Gly (p.R703G) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- Blau syndrome inflammatory bowel disease 1
- Source Database
- ClinVar
- Description
- NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) AND multiple conditions
- ClinVar Allele ID
- 927843
- ClinVar RefSeq Alternation Syntax
- NM_001293557.2:c.2026C>G
- ClinVar RefSeq Alternation Syntax
- NM_022162.3:c.2107C>G
- ClinVar RefSeq Alternation Syntax
- NR_163434.1:n.2091C>G
- ClinVar RefSeq Alternation Syntax
- NM_001370466.1:c.2026C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-06-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001222153
- ClinVar Disease
- Inflammatory bowel disease 1
- ClinVar Disease
- Blau syndrome
- Observed Origin Sample
- germline
Drugs