chr19:13346507:C>T 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	chr19:13,346,507-13,346,507
hg38	chr19:13,235,693-13,235,693 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.4988G>A	NP_001120694.1:p.Arg1663Gln
	NM_000068.3:c.5006G>A	NP_000059.3:p.Arg1669Gln
	NM_001174080.1:c.5006G>A	NP_001167551.1:p.Arg1669Gln
	NM_001127221.1:c.4991G>A	NP_001120693.1:p.Arg1664Gln
	NM_023035.2:c.5006G>A	NP_075461.2:p.Arg1669Gln
Ensemble	ENST00000360228.11:c.4988G>A	ENST00000360228.11:p.Arg1663Gln
	ENST00000573710.7:c.4994G>A	ENST00000573710.7:p.Arg1665Gln
	ENST00000585802.7:c.4994G>A	ENST00000585802.7:p.Arg1665Gln
	ENST00000587525.6:c.4988G>A	ENST00000587525.6:p.Arg1663Gln
	ENST00000635727.1:c.4991G>A	ENST00000635727.1:p.Arg1664Gln
	ENST00000635895.1:c.4991G>A	ENST00000635895.1:p.Arg1664Gln
	ENST00000636012.1:c.4991G>A	ENST00000636012.1:p.Arg1664Gln
	ENST00000636389.1:c.4991G>A	ENST00000636389.1:p.Arg1664Gln
	ENST00000636473.2:c.4994G>A	ENST00000636473.2:p.Arg1665Gln
	ENST00000636549.1:c.4997G>A	ENST00000636549.1:p.Arg1666Gln
	ENST00000637276.1:c.4991G>A	ENST00000637276.1:p.Arg1664Gln
	ENST00000637432.1:c.5006G>A	ENST00000637432.1:p.Arg1669Gln
	ENST00000637736.1:c.4850G>A	ENST00000637736.1:p.Arg1617Gln
	ENST00000637769.1:c.4991G>A	ENST00000637769.1:p.Arg1664Gln
	ENST00000637819.2:c.4994G>A	ENST00000637819.2:p.Arg1665Gln
	ENST00000637927.1:c.4994G>A	ENST00000637927.1:p.Arg1665Gln
	ENST00000638009.2:c.4991G>A	ENST00000638009.2:p.Arg1664Gln
	ENST00000638029.1:c.5006G>A	ENST00000638029.1:p.Arg1669Gln
	ENST00000664864.1:c.5192G>A	ENST00000664864.1:p.Arg1731Gln

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-23	criteria provided, single submitter	spinocerebellar ataxia type 6	not provided unknown	Detail
Pathogenic	2014-11-30	no assertion criteria provided	Chronic and progressive ataxia	uniparental	Detail
Pathogenic Likely pathogenic	2023-09-12	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2014-05-20	criteria provided, single submitter	Global developmental delay	unknown	Detail
Pathogenic	2022-06-15	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42,episodic ataxia type 2	germline	Detail
Pathogenic	2022-06-15	criteria provided, single submitter	Developmental and epileptic encephalopathy, 42,episodic ataxia type 2	germline	Detail
Uncertain significance	2017-09-01	criteria provided, single submitter	episodic ataxia type 2	de novo	Detail
Pathogenic	2019-02-11	no assertion criteria provided	Non-progressive congenital cerebellar ataxia	de novo	Detail
Pathogenic		criteria provided, single submitter		de novo	Detail
Likely pathogenic	2019-04-16	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2021-01-07	criteria provided, multiple submitters, no conflicts	Developmental and epileptic encephalopathy, 42	de novo unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.455	Spinocerebellar Ataxia Type 6 (disorder)	NA	CLINVAR		Detail
0.455	Spinocerebellar Ataxia Type 6 (disorder)	Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA...	UNIPROT	16325861	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Spinocerebellar ataxia type 6	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Chronic and progressive ataxia	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND not provided	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Episodic ataxia type 2	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND multiple conditions	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Neurodevelopmental delay	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Inborn genetic diseases	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Developmental and epileptic encephalopathy, 42	ClinVar	Detail
NA	DisGeNET	Detail
Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identi...	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: rs121908247 dbSNP
Genome: hg19
Position: chr19:13,346,507-13,346,507
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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