Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C MUTATION
CACNA1C MUTATION
BDNF p.Val148Met (p.V148M) ( ENST00000532997.5, ENST00000395981.7, ENST00000356660.9, ENST00000314915.6, ENST00000439476.6, ENST00000530861.5, ENST00000395983.7, ENST00000395986.6, ENST00000525950.5, ENST00000533246.5, ENST00000418212.5, ENST00000525528.1, ENST00000533131.5, ENST00000395978.7, ENST00000438929.5 )
P2RX7 p.Gln460Arg (p.Q460R) ( ENST00000328963.10 )
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 )
CACNA1C p.Arg1187Gln (p.R1187Q) ( ENST00000399617.6, ENST00000399637.5, ENST00000682336.1, ENST00000399606.5, ENST00000399603.6, ENST00000682462.1, ENST00000399641.6, ENST00000335762.10, ENST00000399634.6, ENST00000683824.1, ENST00000327702.12, ENST00000399629.5, ENST00000399591.5, ENST00000399595.5, ENST00000683781.1, ENST00000399644.5, ENST00000682544.1, ENST00000682835.1, ENST00000347598.9, ENST00000683482.1, ENST00000399649.5, ENST00000399655.6, ENST00000683840.1, ENST00000399597.5, ENST00000399621.5, ENST00000682686.1, ENST00000399638.5, ENST00000683956.1, ENST00000402845.7, ENST00000344100.7, ENST00000399601.5, ENST00000406454.8 )
FKBP5 c.106-2636A>G ( ENST00000357266.9, ENST00000536438.5, ENST00000539068.5, ENST00000542713.1 )
BDNF p.Val148Met (p.V148M) ( ENST00000314915.6, ENST00000356660.9, ENST00000395978.7, ENST00000395981.7, ENST00000395983.7, ENST00000395986.6, ENST00000418212.5, ENST00000438929.5, ENST00000439476.6, ENST00000525528.1, ENST00000525950.5, ENST00000530861.5, ENST00000532997.5, ENST00000533131.5, ENST00000533246.5 )
P2RX7 p.Gln460Arg (p.Q460R) ( ENST00000328963.10 )
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 )
CACNA1C p.Arg1187Gln (p.R1187Q) ( 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 )
FKBP5 c.106-2636A>G ( ENST00000357266.9, ENST00000536438.5, ENST00000539068.5, ENST00000542713.1 ) - Associated Disease
- major depressive disorder
- Source Database
- DisGeNET
- Description
- The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Arg) and CACNA1C:rs1006737 were genotyped in DNA from 457 depression cases (major depression, dysthymia, and mixed anxiety depression) and 2286 healthy controls with no symptom of psychopathology.
- Pubmed
- 20226536
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2010
Drugs