chr19:13231847:C>T Detail (hg38) (CACNA1A)

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

Information

Genome

Assembly	Position
hg19	chr19:13,342,661-13,342,661 View the variant detail on this assembly version.
hg38	chr19:13,231,847-13,231,847

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.5263G>A	NP_001120694.1:p.Glu1755Lys
	NM_000068.3:c.5281G>A	NP_000059.3:p.Glu1761Lys
	NM_001174080.1:c.5281G>A	NP_001167551.1:p.Glu1761Lys
	NM_001127221.1:c.5266G>A	NP_001120693.1:p.Glu1756Lys
	NM_023035.2:c.5281G>A	NP_075461.2:p.Glu1761Lys
Ensemble	ENST00000360228.11:c.5263G>A	ENST00000360228.11:p.Glu1755Lys
	ENST00000573710.7:c.5269G>A	ENST00000573710.7:p.Glu1757Lys
	ENST00000585802.7:c.5269G>A	ENST00000585802.7:p.Glu1757Lys
	ENST00000587525.6:c.5263G>A	ENST00000587525.6:p.Glu1755Lys
	ENST00000635727.1:c.5266G>A	ENST00000635727.1:p.Glu1756Lys
	ENST00000635895.1:c.5266G>A	ENST00000635895.1:p.Glu1756Lys
	ENST00000636012.1:c.5266G>A	ENST00000636012.1:p.Glu1756Lys
	ENST00000636389.1:c.5266G>A	ENST00000636389.1:p.Glu1756Lys
	ENST00000636473.2:c.5203G>A	ENST00000636473.2:p.Glu1735Lys
	ENST00000636549.1:c.5272G>A	ENST00000636549.1:p.Glu1758Lys
	ENST00000637276.1:c.5266G>A	ENST00000637276.1:p.Glu1756Lys
	ENST00000637432.1:c.5281G>A	ENST00000637432.1:p.Glu1761Lys
	ENST00000637736.1:c.5125G>A	ENST00000637736.1:p.Glu1709Lys
	ENST00000637769.1:c.5266G>A	ENST00000637769.1:p.Glu1756Lys
	ENST00000637819.2:c.5269G>A	ENST00000637819.2:p.Glu1757Lys
	ENST00000637927.1:c.5269G>A	ENST00000637927.1:p.Glu1757Lys
	ENST00000638009.2:c.5266G>A	ENST00000638009.2:p.Glu1756Lys
	ENST00000638029.1:c.5281G>A	ENST00000638029.1:p.Glu1761Lys
	ENST00000664864.1:c.5467G>A	ENST00000664864.1:p.Glu1823Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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	2007-12-04	no assertion criteria provided	episodic ataxia type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.575	Episodic ataxia type 2 (disorder)	NA	CLINVAR		Detail
0.575	Episodic ataxia type 2 (disorder)	Missense CACNA1A mutation causing episodic ataxia type 2.	UNIPROT	11176968	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) AND Episodic ataxia type 2	ClinVar	Detail
NA	DisGeNET	Detail
Missense CACNA1A mutation causing 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: rs121908226 dbSNP
Genome: hg38
Position: chr19:13,231,847-13,231,847
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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