chr19:13257466: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	chr19:13,368,280-13,368,280 View the variant detail on this assembly version.
hg38	chr19:13,257,466-13,257,466

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.4474G>A	NP_001120694.1:p.Val1492Ile
	NM_000068.3:c.4486G>A	NP_000059.3:p.Val1496Ile
	NM_001174080.1:c.4486G>A	NP_001167551.1:p.Val1496Ile
	NM_001127221.1:c.4477G>A	NP_001120693.1:p.Val1493Ile
	NM_023035.2:c.4486G>A	NP_075461.2:p.Val1496Ile
Ensemble	ENST00000360228.11:c.4474G>A	ENST00000360228.11:p.Val1492Ile
	ENST00000573710.7:c.4480G>A	ENST00000573710.7:p.Val1494Ile
	ENST00000585802.7:c.4474G>A	ENST00000585802.7:p.Val1492Ile
	ENST00000587525.6:c.4474G>A	ENST00000587525.6:p.Val1492Ile
	ENST00000635727.1:c.4477G>A	ENST00000635727.1:p.Val1493Ile
	ENST00000635895.1:c.4477G>A	ENST00000635895.1:p.Val1493Ile
	ENST00000636012.1:c.4477G>A	ENST00000636012.1:p.Val1493Ile
	ENST00000636389.1:c.4477G>A	ENST00000636389.1:p.Val1493Ile
	ENST00000636473.2:c.4474G>A	ENST00000636473.2:p.Val1492Ile
	ENST00000636549.1:c.4477G>A	ENST00000636549.1:p.Val1493Ile
	ENST00000637276.1:c.4477G>A	ENST00000637276.1:p.Val1493Ile
	ENST00000637432.1:c.4486G>A	ENST00000637432.1:p.Val1496Ile
	ENST00000637736.1:c.4336G>A	ENST00000637736.1:p.Val1446Ile
	ENST00000637769.1:c.4477G>A	ENST00000637769.1:p.Val1493Ile
	ENST00000637819.2:c.4474G>A	ENST00000637819.2:p.Val1492Ile
	ENST00000637927.1:c.4480G>A	ENST00000637927.1:p.Val1494Ile
	ENST00000638009.2:c.4477G>A	ENST00000638009.2:p.Val1493Ile
	ENST00000638029.1:c.4486G>A	ENST00000638029.1:p.Val1496Ile
	ENST00000664864.1:c.4672G>A	ENST00000664864.1:p.Val1558Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	tgv289879314	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	episodic ataxia type 2	not provided	Detail
Uncertain significance	2022-02-05	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Uncertain significance	2022-02-05	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Uncertain significance	2023-02-08	criteria provided, single submitter	not provided	germline	Detail

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
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) AND Episodic ataxia type 2	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) AND not provided	ClinVar	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: rs121908234 dbSNP
Genome: hg38
Position: chr19:13,257,466-13,257,466
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7402
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 104330
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.584970765839164E-6

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