Annotation Detail
Information
- Associated Genes
- C5
- Associated Variants
-
C5 p.Val808Ile (p.V808I)
(
ENST00000223642.3,
ENST00000696281.1 )
C5 p.Val808Ile (p.V808I) ( ENST00000223642.3, ENST00000696281.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001735.3(C5):c.2404G>A (p.Val802Ile) AND not provided
- ClinVar Allele ID
- 389792
- ClinVar RefSeq Alternation Syntax
- NM_001317164.2:c.2404G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317163.2:c.2422G>A
- ClinVar RefSeq Alternation Syntax
- NM_001735.3:c.2404G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001509919
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs