chr19:13368288:A>G 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	chr19:13,368,288-13,368,288
hg38	chr19:13,257,474-13,257,474 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.4466T>C	NP_001120694.1:p.Phe1489Ser
	NM_000068.3:c.4478T>C	NP_000059.3:p.Phe1493Ser
	NM_001174080.1:c.4478T>C	NP_001167551.1:p.Phe1493Ser
	NM_001127221.1:c.4469T>C	NP_001120693.1:p.Phe1490Ser
	NM_023035.2:c.4478T>C	NP_075461.2:p.Phe1493Ser
Ensemble	ENST00000360228.11:c.4466T>C	ENST00000360228.11:p.Phe1489Ser
	ENST00000573710.7:c.4472T>C	ENST00000573710.7:p.Phe1491Ser
	ENST00000585802.7:c.4466T>C	ENST00000585802.7:p.Phe1489Ser
	ENST00000587525.6:c.4466T>C	ENST00000587525.6:p.Phe1489Ser
	ENST00000635727.1:c.4469T>C	ENST00000635727.1:p.Phe1490Ser
	ENST00000635895.1:c.4469T>C	ENST00000635895.1:p.Phe1490Ser
	ENST00000636012.1:c.4469T>C	ENST00000636012.1:p.Phe1490Ser
	ENST00000636389.1:c.4469T>C	ENST00000636389.1:p.Phe1490Ser
	ENST00000636473.2:c.4466T>C	ENST00000636473.2:p.Phe1489Ser
	ENST00000636549.1:c.4469T>C	ENST00000636549.1:p.Phe1490Ser
	ENST00000637276.1:c.4469T>C	ENST00000637276.1:p.Phe1490Ser
	ENST00000637432.1:c.4478T>C	ENST00000637432.1:p.Phe1493Ser
	ENST00000637736.1:c.4328T>C	ENST00000637736.1:p.Phe1443Ser
	ENST00000637769.1:c.4469T>C	ENST00000637769.1:p.Phe1490Ser
	ENST00000637819.2:c.4466T>C	ENST00000637819.2:p.Phe1489Ser
	ENST00000637927.1:c.4472T>C	ENST00000637927.1:p.Phe1491Ser
	ENST00000638009.2:c.4469T>C	ENST00000638009.2:p.Phe1490Ser
	ENST00000638029.1:c.4478T>C	ENST00000638029.1:p.Phe1493Ser
	ENST00000664864.1:c.4664T>C	ENST00000664864.1:p.Phe1555Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2021-07-12	criteria provided, single submitter	episodic ataxia type 2	germline not provided unknown	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)	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
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) AND Episodic ataxia type 2	ClinVar	Detail
NA	DisGeNET	Detail
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: rs121908233 dbSNP
Genome: hg19
Position: chr19:13,368,288-13,368,288
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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