chr19:13394111:G> 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	chr19:13,394,111-13,394,111
hg38	chr19:13,283,297-13,283,297

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.3792delC	NP_001120694.1:p.Pro1265LeufsTer28
	NM_000068.3:c.3804delC	NP_000059.3:p.Pro1269LeufsTer28
	NM_001174080.1:c.3804delC	NP_001167551.1:p.Pro1269LeufsTer28
	NM_001127221.1:c.3795delC	NP_001120693.1:p.Pro1266LeufsTer28
	NM_023035.2:c.3804delC	NP_075461.2:p.Pro1269LeufsTer28
Ensemble	ENST00000360228.11:c.3792delC	ENST00000360228.11:p.Pro1265LeufsTer28
	ENST00000573710.7:c.3798delC	ENST00000573710.7:p.Pro1267LeufsTer28
	ENST00000585802.7:c.3792delC	ENST00000585802.7:p.Pro1265LeufsTer28
	ENST00000587525.6:c.3792delC	ENST00000587525.6:p.Pro1265LeufsTer28
	ENST00000635727.1:c.3795delC	ENST00000635727.1:p.Pro1266LeufsTer28
	ENST00000635895.1:c.3795delC	ENST00000635895.1:p.Pro1266LeufsTer28
	ENST00000636012.1:c.3795delC	ENST00000636012.1:p.Pro1266LeufsTer28
	ENST00000636389.1:c.3795delC	ENST00000636389.1:p.Pro1266LeufsTer28
	ENST00000636473.2:c.3792delC	ENST00000636473.2:p.Pro1265LeufsTer28
	ENST00000636549.1:c.3795delC	ENST00000636549.1:p.Pro1266LeufsTer28
	ENST00000637276.1:c.3795delC	ENST00000637276.1:p.Pro1266LeufsTer28
	ENST00000637432.1:c.3804delC	ENST00000637432.1:p.Pro1269LeufsTer28
	ENST00000637736.1:c.3654delC	ENST00000637736.1:p.Pro1219LeufsTer28
	ENST00000637769.1:c.3795delC	ENST00000637769.1:p.Pro1266LeufsTer28
	ENST00000637819.2:c.3792delC	ENST00000637819.2:p.Pro1265LeufsTer28
	ENST00000637927.1:c.3798delC	ENST00000637927.1:p.Pro1267LeufsTer28
	ENST00000638009.2:c.3795delC	ENST00000638009.2:p.Pro1266LeufsTer28
	ENST00000638029.1:c.3804delC	ENST00000638029.1:p.Pro1269LeufsTer28
	ENST00000664864.1:c.3990delC	ENST00000664864.1:p.Pro1331LeufsTer28

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	1996-11-01	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

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs) AND Episodic ataxia type 2	ClinVar	Detail
NA	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: rs587776692 dbSNP
Genome: hg19
Position: chr19:13,394,111-13,394,111
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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