chr19:13212448:G>A 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	chr19:13,323,262-13,323,262 View the variant detail on this assembly version.
hg38	chr19:13,212,448-13,212,448

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.6125C>T	NP_001120694.1:p.Thr2042Met
	NM_000068.3:c.6143C>T	NP_000059.3:p.Thr2048Met
	NM_001174080.1:c.6143C>T	NP_001167551.1:p.Thr2048Met
	NM_001127221.1:c.6128C>T	NP_001120693.1:p.Thr2043Met
	NM_023035.2:c.6143C>T	NP_075461.2:p.Thr2048Met
Ensemble	ENST00000360228.11:c.6125C>T	ENST00000360228.11:p.Thr2042Met
	ENST00000573710.7:c.6131C>T	ENST00000573710.7:p.Thr2044Met
	ENST00000585802.7:c.6131C>T	ENST00000585802.7:p.Thr2044Met
	ENST00000587525.6:c.6125C>T	ENST00000587525.6:p.Thr2042Met
	ENST00000635727.1:c.6128C>T	ENST00000635727.1:p.Thr2043Met
	ENST00000635895.1:c.6128C>T	ENST00000635895.1:p.Thr2043Met
	ENST00000636012.1:c.6128C>T	ENST00000636012.1:p.Thr2043Met
	ENST00000636389.1:c.6128C>T	ENST00000636389.1:p.Thr2043Met
	ENST00000636473.2:c.5840C>T	ENST00000636473.2:p.Thr1947Met
	ENST00000636549.1:c.6134C>T	ENST00000636549.1:p.Thr2045Met
	ENST00000637276.1:c.6128C>T	ENST00000637276.1:p.Thr2043Met
	ENST00000637432.1:c.6143C>T	ENST00000637432.1:p.Thr2048Met
	ENST00000637736.1:c.5987C>T	ENST00000637736.1:p.Thr1996Met
	ENST00000637769.1:c.6128C>T	ENST00000637769.1:p.Thr2043Met
	ENST00000637819.2:c.6131C>T	ENST00000637819.2:p.Thr2044Met
	ENST00000637927.1:c.6131C>T	ENST00000637927.1:p.Thr2044Met
	ENST00000638009.2:c.6128C>T	ENST00000638009.2:p.Thr2043Met
	ENST00000638029.1:c.6143C>T	ENST00000638029.1:p.Thr2048Met
	ENST00000664864.1:c.6329C>T	ENST00000664864.1:p.Thr2110Met

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2024-01-04	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42,episodic ataxia type 2	germline	Detail
Likely benign	2024-01-04	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42,episodic ataxia type 2	germline	Detail
Conflicting interpretations of pathogenicity	2021-06-18	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance		criteria provided, single submitter	myelitis,combined immunodeficiency	germline	Detail
Uncertain significance		criteria provided, single submitter	myelitis,combined immunodeficiency	germline	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Migraine, familial hemiplegic, 1,episodic ataxia type 2,Developmental and epileptic encephalopathy, 42,spinocerebellar ataxia type 6	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Migraine, familial hemiplegic, 1,episodic ataxia type 2,Developmental and epileptic encephalopathy, 42,spinocerebellar ataxia type 6	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Migraine, familial hemiplegic, 1,episodic ataxia type 2,Developmental and epileptic encephalopathy, 42,spinocerebellar ataxia type 6	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Migraine, familial hemiplegic, 1,episodic ataxia type 2,Developmental and epileptic encephalopathy, 42,spinocerebellar ataxia type 6	unknown	Detail
Likely benign	2019-01-17	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Uncertain significance	2022-12-28	criteria provided, single submitter	CACNA1A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND not provided	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND Inborn genetic diseases	ClinVar	Detail
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) AND CACNA1A-related disorder	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: rs563345694 dbSNP
Genome: hg38
Position: chr19:13,212,448-13,212,448
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6254
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): 85246
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.346151139056378E-5

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