chr19:13283266:C>T Detail (hg38) (CACNA1A)

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

Genome

Assembly	Position
hg19	chr19:13,394,080-13,394,080 View the variant detail on this assembly version.
hg38	chr19:13,283,266-13,283,266

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.3822+1G>A
	NM_000068.3:c.3834+1G>A
	NM_001174080.1:c.3834+1G>A
	NM_001127221.1:c.3825+1G>A
	NM_023035.2:c.3834+1G>A
Ensemble	ENST00000360228.11:c.3822+1G>A
	ENST00000573710.7:c.3828+1G>A
	ENST00000585802.7:c.3822+1G>A
	ENST00000587525.6:c.3822+1G>A
	ENST00000635727.1:c.3825+1G>A
	ENST00000635895.1:c.3825+1G>A
	ENST00000636012.1:c.3825+1G>A
	ENST00000636389.1:c.3825+1G>A
	ENST00000636473.2:c.3822+1G>A
	ENST00000636549.1:c.3825+1G>A
	ENST00000637276.1:c.3825+1G>A
	ENST00000637432.1:c.3834+1G>A
	ENST00000637736.1:c.3684+1G>A
	ENST00000637769.1:c.3825+1G>A
	ENST00000637819.2:c.3822+1G>A
	ENST00000637927.1:c.3828+1G>A
	ENST00000638009.2:c.3825+1G>A
	ENST00000638029.1:c.3834+1G>A
	ENST00000664864.1:c.4020+1G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

CACNA1A

Type	Database	ID	Link
Gene	MIM	601011	OMIM
	HGNC	1388	HGNC
	Ensembl	ENSG00000141837	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
Pathogenic	2022-04-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-02-08	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-06-17	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Pathogenic	2023-06-17	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Pathogenic	2023-02-23	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42	unknown	Detail
Pathogenic	2023-01-06	criteria provided, single submitter	CACNA1A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.575	Episodic ataxia type 2 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.3822+1G>A AND not provided	ClinVar	Detail
NM_001127222.2(CACNA1A):c.3822+1G>A AND Inborn genetic diseases	ClinVar	Detail
NM_001127222.2(CACNA1A):c.3822+1G>A AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.3822+1G>A AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.3822+1G>A AND Developmental and epileptic encephalopathy, 42	ClinVar	Detail
NM_001127222.2(CACNA1A):c.3822+1G>A AND CACNA1A-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs794727355 dbSNP
Genome: hg38
Position: chr19:13,283,266-13,283,266
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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