Annotation Detail
Information
- Associated Genes
- ICAM1
- Associated Variants
-
ICAM1 p.Lys469Glu (p.K469E)
(
ENST00000264832.8,
ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 ) - Associated Disease
- ICAM1-related disorder
- Source Database
- ClinVar
- Description
- NM_000201.3(ICAM1):c.1405A>G (p.Lys469Glu) AND ICAM1-related disorder
- ClinVar Allele ID
- 3217982
- ClinVar RefSeq Alternation Syntax
- NM_000201.3:c.1405A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982106
- ClinVar Disease
- ICAM1-related disorder
- Observed Origin Sample
- germline
Drugs