Annotation Detail

Information
Associated Genes
NOD1
Associated Variants
NOD1 p.Glu266Lys (p.E266K) ( ENST00000222823.9 )
NOD1 p.Glu266Lys (p.E266K) ( ENST00000222823.9 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_006092.4(NOD1):c.796G>A (p.Glu266Lys) AND not provided
ClinVar Allele ID
1225995
ClinVar RefSeq Alternation Syntax
NM_006092.4:c.796G>A
ClinVar RefSeq Alternation Syntax
NR_149002.2:n.1326G>A
ClinVar RefSeq Alternation Syntax
NM_001354849.2:c.796G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2021-04-14
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001618156
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs