chr19:13476262:G>A Detail (hg19) (CACNA1A)

Information

Genome

Assembly Position
hg19 chr19:13,476,262-13,476,262
hg38 chr19:13,365,448-13,365,448 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.653C>T NP_001120694.1:p.Ser218Leu
NM_000068.3:c.653C>T NP_000059.3:p.Ser218Leu
NM_001174080.1:c.653C>T NP_001167551.1:p.Ser218Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic hemiconvulsion-hemiplegia-epilepsy syndrome assosiated with paravovirus B19 infection unknown MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-09-12 no assertion criteria provided Migraine, familial hemiplegic, 1 germline not provided Detail
Pathogenic 2016-05-12 criteria provided, multiple submitters, no conflicts episodic ataxia type 2 germline Detail
Pathogenic 2023-10-08 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
Pathogenic 2023-10-08 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
not provided no assertion provided familial hemiplegic migraine germline Detail
Pathogenic 2022-07-29 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2023-12-15 criteria provided, multiple submitters, no conflicts Developmental and epileptic encephalopathy, 42 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 familial hemiplegic migraine Of the 18 missense mutations in the CACNA1A gene, which are associated with fami... BeFree 18400034 Detail
0.002 Seizures Early seizures and cerebral oedema after trivial head trauma associated with the... BeFree 19520699 Detail
0.002 Seizures Electroencephalographic changes and seizures in familial hemiplegic migraine pat... BeFree 18313928 Detail
0.332 Hemiplegic migraine, familial type 1 We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit... UNIPROT 11409427 Detail
0.009 Hemiplegic migraine Here we report a sporadic case of FHM1 linked to S218L CACNA1A gene mutation wit... BeFree 20071244 Detail
0.019 familial hemiplegic migraine The CACNA1A S218L mutation is associated with familial hemiplegic migraine, atax... BeFree 19520699 Detail
0.122 MIGRAINE, SPORADIC HEMIPLEGIC We conclude that the Serine-218-Leucine mutation in the calcium channel, voltage... BeFree 16638514 Detail
0.019 familial hemiplegic migraine The S218L CACNA1A mutation has been previously described in two families with fa... BeFree 18313928 Detail
0.019 familial hemiplegic migraine Specific kinetic alterations of human CaV2.1 calcium channels produced by mutati... BeFree 15743764 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND Migraine, familial hemiplegic, 1 ClinVar Detail
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND Episodic ataxia type 2 ClinVar Detail
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND Familial hemiplegic migraine ClinVar Detail
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND not provided ClinVar Detail
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) AND Developmental and epileptic encephalopathy, 42 ClinVar Detail
Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migr... DisGeNET Detail
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutat... DisGeNET Detail
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA... DisGeNET Detail
We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in... DisGeNET Detail
Here we report a sporadic case of FHM1 linked to S218L CACNA1A gene mutation with the triad of prolo... DisGeNET Detail
The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. DisGeNET Detail
We conclude that the Serine-218-Leucine mutation in the calcium channel, voltage-dependent, P/Q type... DisGeNET Detail
The S218L CACNA1A mutation has been previously described in two families with familial hemiplegic mi... DisGeNET Detail
Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing fam... 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
rs121908225 dbSNP
Genome
hg19
Position
chr19:13,476,262-13,476,262
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser