Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Gly908Arg (p.G908R)
(
ENST00000300589.6,
ENST00000647318.2 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- inflammatory bowel disease 1 Psoriatic arthritis, susceptibility to Yao syndrome Blau syndrome
- Source Database
- ClinVar
- Description
- NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) AND multiple conditions
- ClinVar Allele ID
- 19731
- ClinVar RefSeq Alternation Syntax
- NM_001370466.1:c.2641G>C
- ClinVar RefSeq Alternation Syntax
- NR_163434.1:n.2853G>C
- ClinVar RefSeq Alternation Syntax
- NM_001293557.2:c.2641G>C
- ClinVar RefSeq Alternation Syntax
- NM_022162.3:c.2722G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-04-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002054415
- ClinVar Disease
- Inflammatory bowel disease 1
- ClinVar Disease
- Psoriatic arthritis, susceptibility to
- ClinVar Disease
- Blau syndrome
- ClinVar Disease
- Yao syndrome
- Observed Origin Sample
- germline
Drugs