Annotation Detail
Information
- Associated Genes
- FPR1
- Associated Variants
-
FPR1 p.Leu97Met (p.L97M)
(
ENST00000304748.5,
ENST00000594900.2,
ENST00000595042.5,
ENST00000600815.2 )
FPR1 p.Leu97Met (p.L97M) ( ENST00000304748.5, ENST00000594900.2, ENST00000595042.5, ENST00000600815.2 ) - Associated Disease
- FPR1-related disorder
- Source Database
- ClinVar
- Description
- NM_002029.4(FPR1):c.289C>A (p.Leu97Met) AND FPR1-related disorder
- ClinVar Allele ID
- 533441
- ClinVar RefSeq Alternation Syntax
- NM_001193306.2:c.289C>A
- ClinVar RefSeq Alternation Syntax
- NM_002029.4:c.289C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-12-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003935753
- ClinVar Disease
- FPR1-related disorder
- Observed Origin Sample
- germline
Drugs