chr12:2316195:T>A Detail (hg19) (CACNA1C)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr12:2,316,195-2,316,195
hg38	chr12:2,207,029-2,207,029 View the variant detail on this assembly version.

HGVS

CACNA1C

Type	Transcript	Protein
RefSeq	NM_001129835.1:c.477+86599T>A
	NM_001167624.2:c.477+86599T>A
	NM_001129840.1:c.477+86599T>A
	NM_001167623.1:c.477+86599T>A
	NM_001129832.1:c.477+86599T>A
	NM_001129830.2:c.477+86599T>A
	NM_001167625.1:c.477+86599T>A
	NM_001129836.1:c.477+86599T>A
	NM_001129838.1:c.477+86599T>A
	NM_001129846.1:c.477+86599T>A
	NM_001129841.1:c.477+86599T>A
	NM_000719.6:c.477+86599T>A
	NM_001129834.1:c.477+86599T>A
	NM_001129837.1:c.477+86599T>A
	NM_001129839.1:c.477+86599T>A
	NM_001129827.1:c.477+86599T>A
	NM_199460.3:c.477+86599T>A
	NM_001129842.1:c.477+86599T>A
	NM_001129844.1:c.477+86599T>A
	NM_001129831.1:c.477+86599T>A
	NM_001129843.1:c.477+86599T>A
	NM_001129829.1:c.477+86599T>A
	NM_001129833.1:c.477+86599T>A
Ensemble	ENST00000682336.1:c.477+86599T>A
	ENST00000399637.5:c.477+86599T>A
	ENST00000399617.6:c.477+86599T>A
	ENST00000399641.6:c.477+86599T>A
	ENST00000399603.6:c.477+86599T>A
	ENST00000682462.1:c.567+86599T>A
	ENST00000399606.5:c.477+86599T>A
	ENST00000335762.10:c.477+86599T>A
	ENST00000327702.12:c.477+86599T>A
	ENST00000683824.1:c.567+86599T>A
	ENST00000399634.6:c.477+86599T>A
	ENST00000399629.5:c.477+86599T>A
	ENST00000683781.1:c.567+86599T>A
	ENST00000399595.5:c.477+86599T>A
	ENST00000399591.5:c.477+86599T>A
	ENST00000399644.5:c.477+86599T>A
	ENST00000682835.1:c.477+86599T>A
	ENST00000682544.1:c.567+86599T>A
	ENST00000399655.6:c.477+86599T>A
	ENST00000399649.5:c.477+86599T>A
	ENST00000683482.1:c.477+86599T>A
	ENST00000347598.9:c.477+86599T>A
	ENST00000399597.5:c.477+86599T>A
	ENST00000683840.1:c.567+86599T>A
	ENST00000682686.1:c.477+86599T>A
	ENST00000399621.5:c.477+86599T>A
	ENST00000399638.5:c.477+86599T>A
	ENST00000406454.8:c.477+86599T>A
	ENST00000399601.5:c.477+86599T>A
	ENST00000344100.7:c.477+86599T>A
	ENST00000402845.7:c.477+86599T>A
	ENST00000683956.1:c.567+86599T>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.325
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CACNA1C

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	tgv44701275	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	Mental Depression	Caucasian non-Hispanic participants in the STAR*D study of treatment for depress...	BeFree	19388002	Detail
0.001	depressive disorder	Caucasian non-Hispanic participants in the STAR*D study of treatment for depress...	BeFree	19388002	Detail
0.003	depressive disorder	Caucasian non-Hispanic participants in the STAR*D study of treatment for depress...	BeFree	19388002	Detail
0.006	Mental Depression	Caucasian non-Hispanic participants in the STAR*D study of treatment for depress...	BeFree	19388002	Detail

Annotation

Annotations

Descrption	Source	Links
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was...	DisGeNET	Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was...	DisGeNET	Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was...	DisGeNET	Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs10848635 dbSNP
Genome: hg19
Position: chr12:2,316,195-2,316,195
Variant Type: snv
Reference Allele: T
Alternative Allele: A
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)): rs10848635
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3252
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5450
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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