chr19:13372366:T>C Detail (hg19) (CACNA1A, LOC126862864)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr19:13,372,366-13,372,366
hg38	chr19:13,261,552-13,261,552 View the variant detail on this assembly version.

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.4148A>G	NP_001120694.1:p.Tyr1383Cys
	NM_000068.3:c.4160A>G	NP_000059.3:p.Tyr1387Cys
	NM_001174080.1:c.4160A>G	NP_001167551.1:p.Tyr1387Cys
	NM_001127221.1:c.4151A>G	NP_001120693.1:p.Tyr1384Cys
	NM_023035.2:c.4160A>G	NP_075461.2:p.Tyr1387Cys
Ensemble	ENST00000360228.11:c.4148A>G	ENST00000360228.11:p.Tyr1383Cys
	ENST00000573710.7:c.4154A>G	ENST00000573710.7:p.Tyr1385Cys
	ENST00000585802.7:c.4148A>G	ENST00000585802.7:p.Tyr1383Cys
	ENST00000587525.6:c.4148A>G	ENST00000587525.6:p.Tyr1383Cys
	ENST00000635727.1:c.4151A>G	ENST00000635727.1:p.Tyr1384Cys
	ENST00000635895.1:c.4151A>G	ENST00000635895.1:p.Tyr1384Cys
	ENST00000636012.1:c.4151A>G	ENST00000636012.1:p.Tyr1384Cys
	ENST00000636389.1:c.4151A>G	ENST00000636389.1:p.Tyr1384Cys
	ENST00000636473.2:c.4148A>G	ENST00000636473.2:p.Tyr1383Cys
	ENST00000636549.1:c.4151A>G	ENST00000636549.1:p.Tyr1384Cys
	ENST00000637276.1:c.4151A>G	ENST00000637276.1:p.Tyr1384Cys
	ENST00000637432.1:c.4160A>G	ENST00000637432.1:p.Tyr1387Cys
	ENST00000637736.1:c.4010A>G	ENST00000637736.1:p.Tyr1337Cys
	ENST00000637769.1:c.4151A>G	ENST00000637769.1:p.Tyr1384Cys
	ENST00000637819.2:c.4148A>G	ENST00000637819.2:p.Tyr1383Cys
	ENST00000637927.1:c.4154A>G	ENST00000637927.1:p.Tyr1385Cys
	ENST00000638009.2:c.4151A>G	ENST00000638009.2:p.Tyr1384Cys
	ENST00000638029.1:c.4160A>G	ENST00000638029.1:p.Tyr1387Cys
	ENST00000664864.1:c.4346A>G	ENST00000664864.1:p.Tyr1449Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2000-10-10	no assertion criteria provided	Migraine, familial hemiplegic, 1	germline not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.332	Hemiplegic migraine, familial type 1	The clinical spectrum of familial hemiplegic migraine associated with mutations ...	UNIPROT	11439943	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) AND Migraine, familial hemiplegic, 1	ClinVar	Detail
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu...	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: rs121908219 dbSNP
Genome: hg19
Position: chr19:13,372,366-13,372,366
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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