chr19:13235685:G>A Detail (hg38) (CACNA1A)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr19:13,346,499-13,346,499 View the variant detail on this assembly version.
hg38	chr19:13,235,685-13,235,685

HGVS

CACNA1A

Type	Transcript	Protein
RefSeq	NM_001127222.1:c.4996C>T	NP_001120694.1:p.Arg1666Trp
	NM_000068.3:c.5014C>T	NP_000059.3:p.Arg1672Trp
	NM_001174080.1:c.5014C>T	NP_001167551.1:p.Arg1672Trp
	NM_001127221.1:c.4999C>T	NP_001120693.1:p.Arg1667Trp
	NM_023035.2:c.5014C>T	NP_075461.2:p.Arg1672Trp
Ensemble	ENST00000360228.11:c.4996C>T	ENST00000360228.11:p.Arg1666Trp
	ENST00000573710.7:c.5002C>T	ENST00000573710.7:p.Arg1668Trp
	ENST00000585802.7:c.5002C>T	ENST00000585802.7:p.Arg1668Trp
	ENST00000587525.6:c.4996C>T	ENST00000587525.6:p.Arg1666Trp
	ENST00000635727.1:c.4999C>T	ENST00000635727.1:p.Arg1667Trp
	ENST00000635895.1:c.4999C>T	ENST00000635895.1:p.Arg1667Trp
	ENST00000636012.1:c.4999C>T	ENST00000636012.1:p.Arg1667Trp
	ENST00000636389.1:c.4999C>T	ENST00000636389.1:p.Arg1667Trp
	ENST00000636473.2:c.5002C>T	ENST00000636473.2:p.Arg1668Trp
	ENST00000636549.1:c.5005C>T	ENST00000636549.1:p.Arg1669Trp
	ENST00000637276.1:c.4999C>T	ENST00000637276.1:p.Arg1667Trp
	ENST00000637432.1:c.5014C>T	ENST00000637432.1:p.Arg1672Trp
	ENST00000637736.1:c.4858C>T	ENST00000637736.1:p.Arg1620Trp
	ENST00000637769.1:c.4999C>T	ENST00000637769.1:p.Arg1667Trp
	ENST00000637819.2:c.5002C>T	ENST00000637819.2:p.Arg1668Trp
	ENST00000637927.1:c.5002C>T	ENST00000637927.1:p.Arg1668Trp
	ENST00000638009.2:c.4999C>T	ENST00000638009.2:p.Arg1667Trp
	ENST00000638029.1:c.5014C>T	ENST00000638029.1:p.Arg1672Trp
	ENST00000664864.1:c.5200C>T	ENST00000664864.1:p.Arg1734Trp

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	2023-06-13	criteria provided, multiple submitters, no conflicts	Migraine, familial hemiplegic, 1	germline not provided	Detail
Likely pathogenic	2019-08-12	criteria provided, single submitter	not provided	germline	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.4996C>T (p.Arg1666Trp) AND Migraine, familial hemiplegic, 1	ClinVar	Detail
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) AND not provided	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: rs121908220 dbSNP
Genome: hg38
Position: chr19:13,235,685-13,235,685
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser