chr19:13342531:G>A 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	chr19:13,342,531-13,342,531
hg38	chr19:13,231,717-13,231,717 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.5393C>T	NP_001120694.1:p.Ser1798Leu
	NM_000068.3:c.5411C>T	NP_000059.3:p.Ser1804Leu
	NM_001174080.1:c.5411C>T	NP_001167551.1:p.Ser1804Leu
	NM_001127221.1:c.5396C>T	NP_001120693.1:p.Ser1799Leu
	NM_023035.2:c.5411C>T	NP_075461.2:p.Ser1804Leu
Ensemble	ENST00000360228.11:c.5393C>T	ENST00000360228.11:p.Ser1798Leu
	ENST00000573710.7:c.5399C>T	ENST00000573710.7:p.Ser1800Leu
	ENST00000585802.7:c.5399C>T	ENST00000585802.7:p.Ser1800Leu
	ENST00000587525.6:c.5393C>T	ENST00000587525.6:p.Ser1798Leu
	ENST00000635727.1:c.5396C>T	ENST00000635727.1:p.Ser1799Leu
	ENST00000635895.1:c.5396C>T	ENST00000635895.1:p.Ser1799Leu
	ENST00000636012.1:c.5396C>T	ENST00000636012.1:p.Ser1799Leu
	ENST00000636389.1:c.5396C>T	ENST00000636389.1:p.Ser1799Leu
	ENST00000636473.2:c.5333C>T	ENST00000636473.2:p.Ser1778Leu
	ENST00000636549.1:c.5402C>T	ENST00000636549.1:p.Ser1801Leu
	ENST00000637276.1:c.5396C>T	ENST00000637276.1:p.Ser1799Leu
	ENST00000637432.1:c.5411C>T	ENST00000637432.1:p.Ser1804Leu
	ENST00000637736.1:c.5255C>T	ENST00000637736.1:p.Ser1752Leu
	ENST00000637769.1:c.5396C>T	ENST00000637769.1:p.Ser1799Leu
	ENST00000637819.2:c.5399C>T	ENST00000637819.2:p.Ser1800Leu
	ENST00000637927.1:c.5399C>T	ENST00000637927.1:p.Ser1800Leu
	ENST00000638009.2:c.5396C>T	ENST00000638009.2:p.Ser1799Leu
	ENST00000638029.1:c.5411C>T	ENST00000638029.1:p.Ser1804Leu
	ENST00000664864.1:c.5597C>T	ENST00000664864.1:p.Ser1866Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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	COSM1726935	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2022-07-27	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-07-30	criteria provided, multiple submitters, no conflicts	Developmental and epileptic encephalopathy, 42	germline unknown	Detail
Pathogenic	2021-08-20	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42,episodic ataxia type 2	germline	Detail
Pathogenic	2021-08-20	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42,episodic ataxia type 2	germline	Detail
Likely pathogenic	2022-03-20	criteria provided, single submitter	spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2	de novo	Detail
Likely pathogenic	2022-03-20	criteria provided, single submitter	spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2	de novo	Detail
Likely pathogenic	2022-03-20	criteria provided, single submitter	spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2	de novo	Detail
Likely pathogenic	2022-03-20	criteria provided, single submitter	spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2	de novo	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND not provided	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND Developmental and epileptic encephalopathy, 42	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions	ClinVar	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: rs1064794261 dbSNP
Genome: hg19
Position: chr19:13,342,531-13,342,531
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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