Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C c.477+115699G>A
(
ENST00000682686.1,
ENST00000399621.5,
ENST00000399638.5,
ENST00000399601.5,
ENST00000406454.8,
ENST00000344100.7,
ENST00000402845.7,
ENST00000683956.1,
ENST00000399644.5,
ENST00000682544.1,
ENST00000682835.1,
ENST00000399655.6,
ENST00000399649.5,
ENST00000683482.1,
ENST00000347598.9,
ENST00000399597.5,
ENST00000683840.1,
ENST00000335762.10,
ENST00000683824.1,
ENST00000399634.6,
ENST00000327702.12,
ENST00000399629.5,
ENST00000683781.1,
ENST00000399595.5,
ENST00000399591.5,
ENST00000399637.5,
ENST00000682336.1,
ENST00000399617.6,
ENST00000399641.6,
ENST00000399603.6,
ENST00000682462.1,
ENST00000399606.5 )
PCLO p.Ser4814Ala (p.S4814A) ( ENST00000333891.14, ENST00000423517.6, ENST00000618073.1 )
CACNA1C c.477+115699G>A ( ENST00000327702.12, ENST00000335762.10, ENST00000344100.7, ENST00000347598.9, ENST00000399591.5, ENST00000399595.5, ENST00000399597.5, ENST00000399601.5, ENST00000399603.6, ENST00000399606.5, ENST00000399617.6, ENST00000399621.5, ENST00000399629.5, ENST00000399634.6, ENST00000399637.5, ENST00000399638.5, ENST00000399641.6, ENST00000399644.5, ENST00000399649.5, ENST00000399655.6, ENST00000402845.7, ENST00000406454.8, ENST00000682336.1, ENST00000682462.1, ENST00000682544.1, ENST00000682686.1, ENST00000682835.1, ENST00000683482.1, ENST00000683781.1, ENST00000683824.1, ENST00000683840.1, ENST00000683956.1 )
PCLO p.Ser4814Ala (p.S4814A) ( ENST00000333891.14, ENST00000423517.6, ENST00000618073.1 ) - Associated Disease
- Mood Disorders
- Source Database
- DisGeNET
- Description
- Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in genes encoding the neuronal calcium channel CaV1.2 (CACNA1C; rs1006737) and the presynaptic active zone protein Piccolo (PCLO; rs2522833) as risk factors for affective disorders, particularly major depression.
- Pubmed
- 24643163
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2014
Drugs