chr12:2719708:G>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	chr12:2,719,708-2,719,708
hg38	chr12:2,610,542-2,610,542 View the variant detail on this assembly version.

HGVS

CACNA1C

Type	Transcript	Protein
RefSeq	NM_001167624.2:c.3560G>A	NP_001161096.2:p.Arg1187Gln
	NM_001129835.1:c.3560G>A	NP_001123307.1:p.Arg1187Gln
	NM_001129832.1:c.3620G>A	NP_001123304.1:p.Arg1207Gln
	NM_001167623.1:c.3560G>A	NP_001161095.1:p.Arg1187Gln
	NM_001129840.1:c.3560G>A	NP_001123312.1:p.Arg1187Gln
	NM_001167625.1:c.3560G>A	NP_001161097.1:p.Arg1187Gln
	NM_001129830.2:c.3560G>A	NP_001123302.2:p.Arg1187Gln
	NM_001129836.1:c.3560G>A	NP_001123308.1:p.Arg1187Gln
	NM_001129838.1:c.3560G>A	NP_001123310.1:p.Arg1187Gln
	NM_001129846.1:c.3560G>A	NP_001123318.1:p.Arg1187Gln
	NM_001129841.1:c.3560G>A	NP_001123313.1:p.Arg1187Gln
	NM_001129827.1:c.3620G>A	NP_001123299.1:p.Arg1207Gln
	NM_199460.3:c.3620G>A	NP_955630.3:p.Arg1207Gln
	NM_001129839.1:c.3560G>A	NP_001123311.1:p.Arg1187Gln
	NM_000719.6:c.3560G>A	NP_000710.5:p.Arg1187Gln
	NM_001129834.1:c.3560G>A	NP_001123306.1:p.Arg1187Gln
	NM_001129837.1:c.3560G>A	NP_001123309.1:p.Arg1187Gln
	NM_001129842.1:c.3560G>A	NP_001123314.1:p.Arg1187Gln
	NM_001129844.1:c.3560G>A	NP_001123316.1:p.Arg1187Gln
	NM_001129831.1:c.3560G>A	NP_001123303.1:p.Arg1187Gln
	NM_001129833.1:c.3560G>A	NP_001123305.1:p.Arg1187Gln
	NM_001129829.1:c.3560G>A	NP_001123301.1:p.Arg1187Gln
	NM_001129843.1:c.3560G>A	NP_001123315.1:p.Arg1187Gln
Ensemble	ENST00000399617.6:c.3560G>A	ENST00000399617.6:p.Arg1187Gln
	ENST00000399637.5:c.3560G>A	ENST00000399637.5:p.Arg1187Gln
	ENST00000682336.1:c.3635G>A	ENST00000682336.1:p.Arg1212Gln
	ENST00000399606.5:c.3620G>A	ENST00000399606.5:p.Arg1207Gln
	ENST00000399603.6:c.3560G>A	ENST00000399603.6:p.Arg1187Gln
	ENST00000682462.1:c.3650G>A	ENST00000682462.1:p.Arg1217Gln
	ENST00000399641.6:c.3560G>A	ENST00000399641.6:p.Arg1187Gln
	ENST00000335762.10:c.3635G>A	ENST00000335762.10:p.Arg1212Gln
	ENST00000399634.6:c.3560G>A	ENST00000399634.6:p.Arg1187Gln
	ENST00000683824.1:c.3725G>A	ENST00000683824.1:p.Arg1242Gln
	ENST00000327702.12:c.3560G>A	ENST00000327702.12:p.Arg1187Gln
	ENST00000399629.5:c.3560G>A	ENST00000399629.5:p.Arg1187Gln
	ENST00000399591.5:c.3560G>A	ENST00000399591.5:p.Arg1187Gln
	ENST00000399595.5:c.3560G>A	ENST00000399595.5:p.Arg1187Gln
	ENST00000683781.1:c.3650G>A	ENST00000683781.1:p.Arg1217Gln
	ENST00000399644.5:c.3560G>A	ENST00000399644.5:p.Arg1187Gln
	ENST00000682544.1:c.3710G>A	ENST00000682544.1:p.Arg1237Gln
	ENST00000682835.1:c.3560G>A	ENST00000682835.1:p.Arg1187Gln
	ENST00000347598.9:c.3620G>A	ENST00000347598.9:p.Arg1207Gln
	ENST00000683482.1:c.3551G>A	ENST00000683482.1:p.Arg1184Gln
	ENST00000399649.5:c.3560G>A	ENST00000399649.5:p.Arg1187Gln
	ENST00000399655.6:c.3560G>A	ENST00000399655.6:p.Arg1187Gln
	ENST00000683840.1:c.3650G>A	ENST00000683840.1:p.Arg1217Gln
	ENST00000399597.5:c.3560G>A	ENST00000399597.5:p.Arg1187Gln
	ENST00000399621.5:c.3560G>A	ENST00000399621.5:p.Arg1187Gln
	ENST00000682686.1:c.3560G>A	ENST00000682686.1:p.Arg1187Gln
	ENST00000399638.5:c.3560G>A	ENST00000399638.5:p.Arg1187Gln
	ENST00000683956.1:c.3650G>A	ENST00000683956.1:p.Arg1217Gln
	ENST00000402845.7:c.3560G>A	ENST00000402845.7:p.Arg1187Gln
	ENST00000344100.7:c.3560G>A	ENST00000344100.7:p.Arg1187Gln
	ENST00000399601.5:c.3560G>A	ENST00000399601.5:p.Arg1187Gln
	ENST00000406454.8:c.3560G>A	ENST00000406454.8:p.Arg1187Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2014-04-17	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2021-02-23	criteria provided, single submitter	long QT syndrome	germline	Detail
Uncertain significance	2021-06-23	criteria provided, single submitter		germline	Detail
Uncertain significance	2021-07-01	criteria provided, single submitter	Brugada syndrome 3,Timothy syndrome,long QT syndrome 8	unknown	Detail
Uncertain significance	2021-07-01	criteria provided, single submitter	Brugada syndrome 3,Timothy syndrome,long QT syndrome 8	unknown	Detail
Uncertain significance	2021-07-01	criteria provided, single submitter	Brugada syndrome 3,Timothy syndrome,long QT syndrome 8	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	major depressive disorder	The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R...	BeFree	20226536	Detail
0.003	Unipolar Depression	The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R...	BeFree	20226536	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND not provided	ClinVar	Detail
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND Long QT syndrome	ClinVar	Detail
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND Cardiovascular phenotype	ClinVar	Detail
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND multiple conditions	ClinVar	Detail
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND multiple conditions	ClinVar	Detail
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND multiple conditions	ClinVar	Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar...	DisGeNET	Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs368861681 dbSNP
Genome: hg19
Position: chr12:2,719,708-2,719,708
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8628
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117772
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.490982576503753E-6

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