Annotation Detail
Information
- Associated Genes
- CACNB2
- Associated Variants
-
CACNB2 p.Ala352= (p.A352=)
(
ENST00000650685.1,
ENST00000352115.10,
ENST00000377328.5,
ENST00000377315.6,
ENST00000377319.9,
ENST00000617363.4,
ENST00000377329.10,
ENST00000645287.2,
ENST00000396576.6,
ENST00000324631.13,
ENST00000652391.1,
ENST00000282343.13,
ENST00000615785.4 )
CACNB2 p.Ala352= (p.A352=) ( ENST00000282343.13, ENST00000324631.13, ENST00000352115.10, ENST00000377315.6, ENST00000377319.9, ENST00000377328.5, ENST00000377329.10, ENST00000396576.6, ENST00000615785.4, ENST00000617363.4, ENST00000645287.2, ENST00000650685.1, ENST00000652391.1 ) - Associated Disease
- Ventricular fibrillation
- Source Database
- ClinVar
- Description
- NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) AND Ventricular fibrillation
- ClinVar Allele ID
- 178612
- ClinVar RefSeq Alternation Syntax
- NM_201570.3:c.912G>A
- ClinVar RefSeq Alternation Syntax
- NM_201572.4:c.900G>A
- ClinVar RefSeq Alternation Syntax
- NM_201590.3:c.894G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330060.2:c.777G>A
- ClinVar RefSeq Alternation Syntax
- NM_201596.3:c.1056G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167945.2:c.858G>A
- ClinVar RefSeq Alternation Syntax
- NM_201597.3:c.984G>A
- ClinVar RefSeq Alternation Syntax
- NM_000724.4:c.891G>A
- ClinVar RefSeq Alternation Syntax
- NM_201571.4:c.972G>A
- ClinVar RefSeq Alternation Syntax
- NM_201593.3:c.942G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000157130
- ClinVar Disease
- Ventricular fibrillation
- Observed Origin Sample
- germline
Drugs