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
- C2 deficiency, type I
- Source Database
- ClinVar
- Description
- NM_000063.6(C2):c.841_849+19del AND C2 deficiency, type I
- ClinVar Allele ID
- 59668
- ClinVar RefSeq Alternation Syntax
- NM_001145903.3:c.445_453+19del
- ClinVar RefSeq Alternation Syntax
- NM_001178063.3:c.346+326_346+353del
- ClinVar RefSeq Alternation Syntax
- NM_001282458.2:c.754_762+19del
- ClinVar RefSeq Alternation Syntax
- NM_001282459.2:c.841_868del
- ClinVar RefSeq Alternation Syntax
- NM_001282457.2:c.111+508_111+535del
- ClinVar RefSeq Alternation Syntax
- NM_000063.6:c.841_849+19del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-05-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002264641
- ClinVar Disease
- C2 deficiency, type I
- Observed Origin Sample
- germline
- Pubmed
- 1577763
Drugs