chr19:13209438:G>A 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	chr19:13,320,252-13,320,252 View the variant detail on this assembly version.
hg38	chr19:13,209,438-13,209,438

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.6400C>T	NP_001120694.1:p.Arg2134Cys
	NM_000068.3:c.6418C>T	NP_000059.3:p.Arg2140Cys
	NM_001174080.1:c.6418C>T	NP_001167551.1:p.Arg2140Cys
	NM_001127221.1:c.6403C>T	NP_001120693.1:p.Arg2135Cys
	NM_023035.2:c.6418C>T	NP_075461.2:p.Arg2140Cys
Ensemble	ENST00000360228.11:c.6400C>T	ENST00000360228.11:p.Arg2134Cys
	ENST00000573710.7:c.6406C>T	ENST00000573710.7:p.Arg2136Cys
	ENST00000585802.7:c.6370C>T	ENST00000585802.7:p.Arg2124Cys
	ENST00000587525.6:c.6364C>T	ENST00000587525.6:p.Arg2122Cys
	ENST00000635727.1:c.6403C>T	ENST00000635727.1:p.Arg2135Cys
	ENST00000635895.1:c.6403C>T	ENST00000635895.1:p.Arg2135Cys
	ENST00000636012.1:c.6367C>T	ENST00000636012.1:p.Arg2123Cys
	ENST00000636389.1:c.6403C>T	ENST00000636389.1:p.Arg2135Cys
	ENST00000636473.2:c.6115C>T	ENST00000636473.2:p.Arg2039Cys
	ENST00000636549.1:c.6409C>T	ENST00000636549.1:p.Arg2137Cys
	ENST00000637276.1:c.6367C>T	ENST00000637276.1:p.Arg2123Cys
	ENST00000637432.1:c.6418C>T	ENST00000637432.1:p.Arg2140Cys
	ENST00000637736.1:c.6262C>T	ENST00000637736.1:p.Arg2088Cys
	ENST00000637769.1:c.6403C>T	ENST00000637769.1:p.Arg2135Cys
	ENST00000637819.2:c.6406C>T	ENST00000637819.2:p.Arg2136Cys
	ENST00000637927.1:c.6406C>T	ENST00000637927.1:p.Arg2136Cys
	ENST00000638009.2:c.6403C>T	ENST00000638009.2:p.Arg2135Cys
	ENST00000638029.1:c.6418C>T	ENST00000638029.1:p.Arg2140Cys
	ENST00000664864.1:c.6604C>T	ENST00000664864.1:p.Arg2202Cys

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	Conflicting classifications of pathogenicity
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	tgv404626085	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2020-04-18	criteria provided, single submitter	episodic ataxia type 2	inherited not provided	Detail
Likely benign	2023-11-22	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Likely benign	2023-11-22	criteria provided, single submitter	episodic ataxia type 2,Developmental and epileptic encephalopathy, 42	germline	Detail
Uncertain significance	2023-11-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2018-11-22	criteria provided, single submitter	cerebellar ataxia	germline	Detail
Uncertain significance	2023-02-07	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2021-07-22	no assertion criteria provided	spinocerebellar ataxia type 6	unknown	Detail
Uncertain significance	2018-05-31	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely pathogenic	2022-01-11	no assertion criteria 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.6400C>T (p.Arg2134Cys) AND Episodic ataxia type 2	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND not provided	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND Cerebellar ataxia	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND not specified	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND Spinocerebellar ataxia type 6	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND Inborn genetic diseases	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) AND Tip-toe gait	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: rs121908235 dbSNP
Genome: hg38
Position: chr19:13,209,438-13,209,438
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 798
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): 10944
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.654970760233918E-4

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