Annotation Detail
Information
- Associated Genes
- C8B
- Associated Variants
-
C8B p.Trp551Ter (p.W551*)
(
ENST00000371237.9,
ENST00000696164.1,
ENST00000695842.1 )
C8B p.Trp551Ter (p.W551*) ( ENST00000371237.9, ENST00000695842.1, ENST00000696164.1 ) - Associated Disease
- type II complement component 8 deficiency
- Source Database
- ClinVar
- Description
- NM_000066.4(C8B):c.1653G>A (p.Trp551Ter) AND Type II complement component 8 deficiency
- ClinVar Allele ID
- 550315
- ClinVar RefSeq Alternation Syntax
- NM_000066.4:c.1653G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278544.2:c.1467G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278543.2:c.1497G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000677371
- ClinVar Disease
- Type II complement component 8 deficiency
- Observed Origin Sample
- germline
Drugs