chr12:2241286:A>G Detail (hg38) (CACNA1C)

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

Information

Genome

Assembly	Position
hg19	chr12:2,350,452-2,350,452 View the variant detail on this assembly version.
hg38	chr12:2,241,286-2,241,286

HGVS

CACNA1C

Type	Transcript	Protein
RefSeq	NM_001129830.2:c.477+120856A>G
	NM_001129829.1:c.477+120856A>G
	NM_001129827.1:c.477+120856A>G
	NM_199460.3:c.477+120856A>G
	NM_001129838.1:c.477+120856A>G
	NM_001129846.1:c.477+120856A>G
	NM_001129842.1:c.477+120856A>G
	NM_001129844.1:c.477+120856A>G
	NM_001129843.1:c.477+120856A>G
	NM_001167623.1:c.477+120856A>G
	NM_001129832.1:c.477+120856A>G
	NM_001167624.2:c.477+120856A>G
	NM_001129836.1:c.477+120856A>G
	NM_001167625.1:c.477+120856A>G
	NM_001129835.1:c.477+120856A>G
	NM_001129831.1:c.477+120856A>G
	NM_001129840.1:c.477+120856A>G
	NM_001129841.1:c.477+120856A>G
	NM_001129839.1:c.477+120856A>G
	NM_000719.6:c.477+120856A>G
	NM_001129834.1:c.477+120856A>G
	NM_001129837.1:c.477+120856A>G
	NM_001129833.1:c.477+120856A>G
Ensemble	ENST00000327702.12:c.477+120856A>G
	ENST00000335762.10:c.477+120856A>G
	ENST00000344100.7:c.477+120856A>G
	ENST00000347598.9:c.477+120856A>G
	ENST00000399591.5:c.477+120856A>G
	ENST00000399595.5:c.477+120856A>G
	ENST00000399597.5:c.477+120856A>G
	ENST00000399601.5:c.477+120856A>G
	ENST00000399603.6:c.477+120856A>G
	ENST00000399606.5:c.477+120856A>G
	ENST00000399617.6:c.477+120856A>G
	ENST00000399621.5:c.477+120856A>G
	ENST00000399629.5:c.477+120856A>G
	ENST00000399634.6:c.477+120856A>G
	ENST00000399637.5:c.477+120856A>G
	ENST00000399638.5:c.477+120856A>G
	ENST00000399641.6:c.477+120856A>G
	ENST00000399644.5:c.477+120856A>G
	ENST00000399649.5:c.477+120856A>G
	ENST00000399655.6:c.477+120856A>G
	ENST00000402845.7:c.477+120856A>G
	ENST00000406454.8:c.477+120856A>G
	ENST00000682336.1:c.477+120856A>G
	ENST00000682462.1:c.567+120856A>G
	ENST00000682544.1:c.567+120856A>G
	ENST00000682686.1:c.477+120856A>G
	ENST00000682835.1:c.477+120856A>G
	ENST00000683482.1:c.477+120856A>G
	ENST00000683781.1:c.567+120856A>G
	ENST00000683824.1:c.567+120856A>G
	ENST00000683840.1:c.567+120856A>G
	ENST00000683956.1:c.567+120856A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.308
	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	tgv44701941	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
<0.001	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

Annotation

Annotations

Descrption	Source	Links
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

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs882194 dbSNP
Genome: hg38
Position: chr12:2,241,286-2,241,286
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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)): rs882194
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3076
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5155
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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