chr19:13470521:C>T Detail (hg19) (CACNA1A)

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

Information

Genome

Assembly	Position
hg19	chr19:13,470,521-13,470,521
hg38	chr19:13,359,707-13,359,707 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.877G>A	NP_001120694.1:p.Gly293Arg
	NM_000068.3:c.877G>A	NP_000059.3:p.Gly293Arg
	NM_001174080.1:c.877G>A	NP_001167551.1:p.Gly293Arg
	NM_001127221.1:c.877G>A	NP_001120693.1:p.Gly293Arg
	NM_023035.2:c.877G>A	NP_075461.2:p.Gly293Arg
Ensemble	ENST00000360228.11:c.877G>A	ENST00000360228.11:p.Gly293Arg
	ENST00000573710.7:c.877G>A	ENST00000573710.7:p.Gly293Arg
	ENST00000585802.7:c.877G>A	ENST00000585802.7:p.Gly293Arg
	ENST00000587525.6:c.877G>A	ENST00000587525.6:p.Gly293Arg
	ENST00000635727.1:c.877G>A	ENST00000635727.1:p.Gly293Arg
	ENST00000635895.1:c.877G>A	ENST00000635895.1:p.Gly293Arg
	ENST00000636012.1:c.877G>A	ENST00000636012.1:p.Gly293Arg
	ENST00000636389.1:c.877G>A	ENST00000636389.1:p.Gly293Arg
	ENST00000636473.2:c.877G>A	ENST00000636473.2:p.Gly293Arg
	ENST00000636549.1:c.877G>A	ENST00000636549.1:p.Gly293Arg
	ENST00000637276.1:c.877G>A	ENST00000637276.1:p.Gly293Arg
	ENST00000637432.1:c.877G>A	ENST00000637432.1:p.Gly293Arg
	ENST00000637736.1:c.736G>A	ENST00000637736.1:p.Gly246Arg
	ENST00000637769.1:c.877G>A	ENST00000637769.1:p.Gly293Arg
	ENST00000637819.2:c.877G>A	ENST00000637819.2:p.Gly293Arg
	ENST00000637927.1:c.877G>A	ENST00000637927.1:p.Gly293Arg
	ENST00000638009.2:c.877G>A	ENST00000638009.2:p.Gly293Arg
	ENST00000638029.1:c.877G>A	ENST00000638029.1:p.Gly293Arg
	ENST00000664864.1:c.1072G>A	ENST00000664864.1:p.Gly358Arg

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	2005-06-28	no assertion criteria provided	spinocerebellar ataxia type 6	germline not provided	Detail
Pathogenic	2005-06-28	no assertion criteria provided	episodic ataxia type 2	germline	Detail
Pathogenic	2020-09-13	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Pathogenic	2020-09-13	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
0.575	Episodic ataxia type 2 (disorder)	NA	CLINVAR		Detail
0.455	Spinocerebellar Ataxia Type 6 (disorder)	Clinical spectrum of episodic ataxia type 2.	UNIPROT	14718690	Detail
0.455	Spinocerebellar Ataxia Type 6 (disorder)	NA	CLINVAR		Detail
0.575	Episodic ataxia type 2 (disorder)	Clinical spectrum of episodic ataxia type 2.	UNIPROT	14718690	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND Spinocerebellar ataxia type 6	ClinVar	Detail
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND Episodic ataxia type 2	ClinVar	Detail
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Clinical spectrum of episodic ataxia type 2.	DisGeNET	Detail
NA	DisGeNET	Detail
Clinical spectrum of episodic ataxia type 2.	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: rs121908215 dbSNP
Genome: hg19
Position: chr19:13,470,521-13,470,521
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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