chr19:13257499:C>G Detail (hg38) (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	chr19:13,368,313-13,368,313 View the variant detail on this assembly version.
hg38	chr19:13,257,499-13,257,499

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.4441G>C	NP_001120694.1:p.Gly1481Arg
	NM_000068.3:c.4453G>C	NP_000059.3:p.Gly1485Arg
	NM_001174080.1:c.4453G>C	NP_001167551.1:p.Gly1485Arg
	NM_001127221.1:c.4444G>C	NP_001120693.1:p.Gly1482Arg
	NM_023035.2:c.4453G>C	NP_075461.2:p.Gly1485Arg
Ensemble	ENST00000360228.11:c.4441G>C	ENST00000360228.11:p.Gly1481Arg
	ENST00000573710.7:c.4447G>C	ENST00000573710.7:p.Gly1483Arg
	ENST00000585802.7:c.4441G>C	ENST00000585802.7:p.Gly1481Arg
	ENST00000587525.6:c.4441G>C	ENST00000587525.6:p.Gly1481Arg
	ENST00000635727.1:c.4444G>C	ENST00000635727.1:p.Gly1482Arg
	ENST00000635895.1:c.4444G>C	ENST00000635895.1:p.Gly1482Arg
	ENST00000636012.1:c.4444G>C	ENST00000636012.1:p.Gly1482Arg
	ENST00000636389.1:c.4444G>C	ENST00000636389.1:p.Gly1482Arg
	ENST00000636473.2:c.4441G>C	ENST00000636473.2:p.Gly1481Arg
	ENST00000636549.1:c.4444G>C	ENST00000636549.1:p.Gly1482Arg
	ENST00000637276.1:c.4444G>C	ENST00000637276.1:p.Gly1482Arg
	ENST00000637432.1:c.4453G>C	ENST00000637432.1:p.Gly1485Arg
	ENST00000637736.1:c.4303G>C	ENST00000637736.1:p.Gly1435Arg
	ENST00000637769.1:c.4444G>C	ENST00000637769.1:p.Gly1482Arg
	ENST00000637819.2:c.4441G>C	ENST00000637819.2:p.Gly1481Arg
	ENST00000637927.1:c.4447G>C	ENST00000637927.1:p.Gly1483Arg
	ENST00000638009.2:c.4444G>C	ENST00000638009.2:p.Gly1482Arg
	ENST00000638029.1:c.4453G>C	ENST00000638029.1:p.Gly1485Arg
	ENST00000664864.1:c.4639G>C	ENST00000664864.1:p.Gly1547Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.575	Episodic ataxia type 2 (disorder)	Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 c...	UNIPROT	15173248	Detail

Annotation

Annotations

Descrption	Source	Links
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic atax...	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: rs121908232 dbSNP
Genome: hg38
Position: chr19:13,257,499-13,257,499
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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