chr12:2240418:G>C Detail (hg38) (CACNA1C)

Information

Genome

Assembly Position
hg19 chr12:2,349,584-2,349,584 View the variant detail on this assembly version.
hg38 chr12:2,240,418-2,240,418

HGVS

Type Transcript Protein
RefSeq NM_001129830.2:c.477+119988G>C
NM_001129829.1:c.477+119988G>C
NM_001129827.1:c.477+119988G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.060
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 114205 OMIM
HGNC 1390 HGNC
Ensembl ENSG00000151067 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44701912 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-22 criteria provided, single submitter long QT syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 schizophrenia Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed... BeFree 24275578 Detail
<0.001 schizophrenia Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed... BeFree 24275578 Detail
0.135 schizophrenia Genome-wide association study in a Swedish population yields support for greater... GWASCAT 22688191 Detail
0.135 schizophrenia [Genome-wide association study identifies five new schizophrenia loci.] GAD 21926974 Detail
<0.001 Psychotic Disorders A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.003 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
0.001 Psychotic Disorders A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.270 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
<0.001 Nonorganic psychosis A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
<0.001 Nonorganic psychosis A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.002 Psychotic Disorders A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.129 schizophrenia A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.266 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
0.270 bipolar disorder A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
<0.001 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
0.001 Nonorganic psychosis A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.135 schizophrenia A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.266 bipolar disorder A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.121 schizophrenia A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000719.7(CACNA1C):c.477+119988G>C AND Long QT syndrome ClinVar Detail
Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed significant associa... DisGeNET Detail
Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed significant associa... DisGeNET Detail
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involve... DisGeNET Detail
[Genome-wide association study identifies five new schizophrenia loci.] DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4765905 dbSNP
Genome
hg38
Position
chr12:2,240,418-2,240,418
Variant Type
snv
Reference Allele
G
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4765905
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0597
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1001
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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