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 )
Source Database
ClinVar
Description
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Crohn disease
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
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001535441
Observed Origin Sample
unknown
Drugs