Annotation Detail
Information
- Associated Genes
- ITGAM LOC126862331
- Associated Variants
-
ITGAM p.Arg77His (p.R77H)
(
ENST00000648685.1,
ENST00000544665.9 )
ITGAM p.Arg77His (p.R77H) ( ENST00000544665.9, ENST00000648685.1 ) - Associated Disease
- ITGAM-related disorder
- Source Database
- ClinVar
- Description
- NM_000632.4(ITGAM):c.230G>A (p.Arg77His) AND ITGAM-related disorder
- ClinVar Allele ID
- 1157705
- ClinVar RefSeq Alternation Syntax
- NM_001145808.2:c.230G>A
- ClinVar RefSeq Alternation Syntax
- NM_000632.4:c.230G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003980488
- ClinVar Disease
- ITGAM-related disorder
- Observed Origin Sample
- germline
Drugs