chr10:18823006:G>A Detail (hg19) (CACNB2)

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

Genome

Assembly	Position
hg19	chr10:18,823,006-18,823,006
hg38	chr10:18,534,077-18,534,077 View the variant detail on this assembly version.

HGVS

CACNB2

Type	Transcript	Protein
RefSeq	NM_201597.2:c.984G>A	NP_963891.1:p.Ala328=
	NM_201570.2:c.912G>A	NP_963864.1:p.Ala304=
	NM_001330060.1:c.777G>A	NP_001316989.1:p.Ala259=
	NM_201590.2:c.894G>A	NP_963884.2:p.Ala298=
	NM_000724.3:c.891G>A	NP_000715.2:p.Ala297=
	NM_201593.2:c.1056G>A	NP_963887.2:p.Ala352=
	NM_201596.2:c.1056G>A	NP_963890.2:p.Ala352=
	NM_001167945.1:c.972G>A	NP_001161417.1:p.Ala324=
	NM_201571.3:c.972G>A	NP_963865.2:p.Ala324=
Ensemble	ENST00000650685.1:c.798G>A	ENST00000650685.1:p.Ala266=
	ENST00000352115.10:c.984G>A	ENST00000352115.10:p.Ala328=
	ENST00000377328.5:c.457-2024G>A
	ENST00000377315.6:c.912G>A	ENST00000377315.6:p.Ala304=
	ENST00000377319.9:c.777G>A	ENST00000377319.9:p.Ala259=
	ENST00000617363.4:c.819G>A	ENST00000617363.4:p.Ala273=
	ENST00000377329.10:c.894G>A	ENST00000377329.10:p.Ala298=
	ENST00000645287.2:c.900G>A	ENST00000645287.2:p.Ala300=
	ENST00000396576.6:c.891G>A	ENST00000396576.6:p.Ala297=
	ENST00000324631.13:c.1056G>A	ENST00000324631.13:p.Ala352=
	ENST00000652391.1:c.876G>A	ENST00000652391.1:p.Ala292=
	ENST00000282343.13:c.972G>A	ENST00000282343.13:p.Ala324=
	ENST00000615785.4:c.292-2024G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

CACNB2

Type	Database	ID	Link
Gene	MIM	600003	OMIM
	HGNC	1402	HGNC
	Ensembl	ENSG00000165995	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	2014-08-01	no assertion criteria provided	Ventricular fibrillation	germline	Detail
Uncertain significance	2023-11-17	criteria provided, single submitter		germline	Detail
Uncertain significance	2023-02-10	criteria provided, single submitter	Brugada syndrome 4	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) AND Ventricular fibrillation	ClinVar	Detail
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) AND Cardiovascular phenotype	ClinVar	Detail
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) AND Brugada syndrome 4	ClinVar	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: rs730880058 dbSNP
Genome: hg19
Position: chr10:18,823,006-18,823,006
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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