Annotation Detail
Information
- Associated Genes
- C2
- Associated Variants
-
ENSG00000244255 c.529+326_529+353delGTGGACAGGGTCAGGAATCAGGAGTCTG, C2 p.Val281_Arg283del (p.V281_R283del)
(
ENST00000299367.10,
ENST00000418949.6,
ENST00000442278.6,
ENST00000447952.7,
ENST00000452323.7,
ENST00000469372.5,
ENST00000497706.6,
ENST00000695637.1,
ENST00000695638.1,
ENST00000695644.1 )
ENSG00000244255 c.529+326_529+353delGTGGACAGGGTCAGGAATCAGGAGTCTG, C2 p.Val281_Arg283del (p.V281_R283del) ( ENST00000299367.10, ENST00000418949.6, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 ) - Associated Disease
- complement component 2 deficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs