chr19:13482549:C>T Detail (hg19) (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	chr19:13,482,549-13,482,549
hg38	chr19:13,371,735-13,371,735 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.584G>A	NP_001120694.1:p.Arg195Lys
	NM_000068.3:c.584G>A	NP_000059.3:p.Arg195Lys
	NM_001174080.1:c.584G>A	NP_001167551.1:p.Arg195Lys
	NM_001127221.1:c.584G>A	NP_001120693.1:p.Arg195Lys
	NM_023035.2:c.584G>A	NP_075461.2:p.Arg195Lys
Ensemble	ENST00000360228.11:c.584G>A	ENST00000360228.11:p.Arg195Lys
	ENST00000573710.7:c.584G>A	ENST00000573710.7:p.Arg195Lys
	ENST00000585802.7:c.584G>A	ENST00000585802.7:p.Arg195Lys
	ENST00000587525.6:c.584G>A	ENST00000587525.6:p.Arg195Lys
	ENST00000635727.1:c.584G>A	ENST00000635727.1:p.Arg195Lys
	ENST00000635895.1:c.584G>A	ENST00000635895.1:p.Arg195Lys
	ENST00000636012.1:c.584G>A	ENST00000636012.1:p.Arg195Lys
	ENST00000636389.1:c.584G>A	ENST00000636389.1:p.Arg195Lys
	ENST00000636473.2:c.584G>A	ENST00000636473.2:p.Arg195Lys
	ENST00000636549.1:c.584G>A	ENST00000636549.1:p.Arg195Lys
	ENST00000637276.1:c.584G>A	ENST00000637276.1:p.Arg195Lys
	ENST00000637432.1:c.584G>A	ENST00000637432.1:p.Arg195Lys
	ENST00000637736.1:c.443G>A	ENST00000637736.1:p.Arg148Lys
	ENST00000637769.1:c.584G>A	ENST00000637769.1:p.Arg195Lys
	ENST00000637819.2:c.584G>A	ENST00000637819.2:p.Arg195Lys
	ENST00000637927.1:c.584G>A	ENST00000637927.1:p.Arg195Lys
	ENST00000638009.2:c.584G>A	ENST00000638009.2:p.Arg195Lys
	ENST00000638029.1:c.584G>A	ENST00000638029.1:p.Arg195Lys
	ENST00000664864.1:c.779G>A	ENST00000664864.1:p.Arg260Lys

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
not provided		no assertion provided	Migraine, familial hemiplegic, 1	not provided	Detail
Pathogenic	2022-08-19	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Pathogenic	2022-08-19	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.332	Hemiplegic migraine, familial type 1	The clinical spectrum of familial hemiplegic migraine associated with mutations ...	UNIPROT	11439943	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) AND Migraine, familial hemiplegic, 1	ClinVar	Detail
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) AND multiple conditions	ClinVar	Detail
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu...	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: rs121908222 dbSNP
Genome: hg19
Position: chr19:13,482,549-13,482,549
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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