Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg702Trp (p.R702W)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- inflammatory bowel disease 1
- Source Database
- ClinVar
- Description
- NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Inflammatory bowel disease 1
- ClinVar Allele ID
- 19732
- ClinVar RefSeq Alternation Syntax
- NM_001293557.2:c.2023C>T
- ClinVar RefSeq Alternation Syntax
- NM_022162.3:c.2104C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370466.1:c.2023C>T
- ClinVar RefSeq Alternation Syntax
- NR_163434.1:n.2088C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001781186
- ClinVar Disease
- Inflammatory bowel disease 1
- Observed Origin Sample
- germline
- Pubmed
- 21914217
- Pubmed
- 26070941
- Pubmed
- 11385576
- Pubmed
- 12019468
- Pubmed
- 23102769
Drugs