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 )
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 )
Associated Disease
post-traumatic stress disorder
Source Database
ClinVar
Description
NM_000719.7(CACNA1C):c.477+115699G>A AND Post-traumatic stress disorder
ClinVar Allele ID
1780024
ClinVar RefSeq Alternation Syntax
NM_000719.7:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129831.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129844.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129840.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129832.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129842.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_199460.4:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129835.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129838.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129846.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129833.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129836.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129843.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129829.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129837.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001167624.3:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001167625.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129827.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129839.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129834.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001167623.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129841.2:c.477+115699G>A
ClinVar RefSeq Alternation Syntax
NM_001129830.3:c.477+115699G>A
Clinical Significance Description
Uncertain risk allele
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002481080
ClinVar Disease
Post-traumatic stress disorder
Observed Origin Sample
germline
Drugs