Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Gly908Cys (p.G908C)
(
ENST00000300589.6,
ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- Blau syndrome
- Source Database
- ClinVar
- Description
- NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) AND Blau syndrome
- ClinVar Allele ID
- 797336
- ClinVar RefSeq Alternation Syntax
- NM_001370466.1:c.2641G>T
- ClinVar RefSeq Alternation Syntax
- NR_163434.1:n.2853G>T
- ClinVar RefSeq Alternation Syntax
- NM_022162.3:c.2722G>T
- ClinVar RefSeq Alternation Syntax
- NM_001293557.2:c.2641G>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-04-09
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001118603
- ClinVar Disease
- Blau syndrome
- Observed Origin Sample
- germline
Drugs