chr19:13419266: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	chr19:13,419,266-13,419,266
hg38	chr19:13,308,452-13,308,452 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.1745G>A	NP_001120694.1:p.Arg582Gln
	NM_000068.3:c.1748G>A	NP_000059.3:p.Arg583Gln
	NM_001174080.1:c.1748G>A	NP_001167551.1:p.Arg583Gln
	NM_001127221.1:c.1748G>A	NP_001120693.1:p.Arg583Gln
	NM_023035.2:c.1748G>A	NP_075461.2:p.Arg583Gln
Ensemble	ENST00000360228.11:c.1745G>A	ENST00000360228.11:p.Arg582Gln
	ENST00000573710.7:c.1751G>A	ENST00000573710.7:p.Arg584Gln
	ENST00000585802.7:c.1745G>A	ENST00000585802.7:p.Arg582Gln
	ENST00000587525.6:c.1745G>A	ENST00000587525.6:p.Arg582Gln
	ENST00000635727.1:c.1748G>A	ENST00000635727.1:p.Arg583Gln
	ENST00000635895.1:c.1748G>A	ENST00000635895.1:p.Arg583Gln
	ENST00000636012.1:c.1748G>A	ENST00000636012.1:p.Arg583Gln
	ENST00000636389.1:c.1748G>A	ENST00000636389.1:p.Arg583Gln
	ENST00000636473.2:c.1745G>A	ENST00000636473.2:p.Arg582Gln
	ENST00000636549.1:c.1748G>A	ENST00000636549.1:p.Arg583Gln
	ENST00000637276.1:c.1748G>A	ENST00000637276.1:p.Arg583Gln
	ENST00000637432.1:c.1748G>A	ENST00000637432.1:p.Arg583Gln
	ENST00000637736.1:c.1607G>A	ENST00000637736.1:p.Arg536Gln
	ENST00000637769.1:c.1748G>A	ENST00000637769.1:p.Arg583Gln
	ENST00000637819.2:c.1745G>A	ENST00000637819.2:p.Arg582Gln
	ENST00000637927.1:c.1751G>A	ENST00000637927.1:p.Arg584Gln
	ENST00000638009.2:c.1748G>A	ENST00000638009.2:p.Arg583Gln
	ENST00000638029.1:c.1748G>A	ENST00000638029.1:p.Arg583Gln
	ENST00000664864.1:c.1943G>A	ENST00000664864.1:p.Arg648Gln

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	2003-04-01	no assertion criteria provided	Migraine, familial hemiplegic, 1	germline not provided	Detail
Pathogenic	2003-04-01	no assertion criteria provided	Sporadic hemiplegic migraine	germline	Detail
Pathogenic	2022-07-14	criteria provided, single submitter	spinocerebellar ataxia type 6	inherited germline	Detail
Pathogenic	2023-04-19	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-08-12	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Pathogenic	2022-08-12	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
not provided		no assertion provided	familial hemiplegic migraine	germline	Detail
Pathogenic	2022-03-20	criteria provided, single submitter	episodic ataxia type 2,spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52	paternal	Detail
Pathogenic	2022-03-20	criteria provided, single submitter	episodic ataxia type 2,spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52	paternal	Detail
Pathogenic	2022-03-20	criteria provided, single submitter	episodic ataxia type 2,spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52	paternal	Detail
Pathogenic	2022-03-20	criteria provided, single submitter	episodic ataxia type 2,spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52	paternal	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
0.019	familial hemiplegic migraine	Of the 18 missense mutations in the CACNA1A gene, which are associated with fami...	BeFree	18400034	Detail
0.455	Spinocerebellar Ataxia Type 6 (disorder)	NA	CLINVAR		Detail
0.122	MIGRAINE, SPORADIC HEMIPLEGIC	NA	CLINVAR		Detail
0.142	Ataxia	R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.	BeFree	22527033	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND Migraine, familial hemiplegic, 1	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND Sporadic hemiplegic migraine	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND Spinocerebellar ataxia type 6	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND not provided	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND Familial hemiplegic migraine	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) AND multiple conditions	ClinVar	Detail
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu...	DisGeNET	Detail
Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migr...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.	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: rs121908217 dbSNP
Genome: hg19
Position: chr19:13,419,266-13,419,266
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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