chr19:13303877:G>A Detail (hg38) (CACNA1A)

Information

Genome

Assembly Position
hg19 chr19:13,414,691-13,414,691 View the variant detail on this assembly version.
hg38 chr19:13,303,877-13,303,877

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.1994C>T NP_001120694.1:p.Thr665Met
NM_000068.3:c.1997C>T NP_000059.3:p.Thr666Met
NM_001174080.1:c.1997C>T NP_001167551.1:p.Thr666Met
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM2817734 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic hemiplegic migraine germline MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
Pathogenic coma germline MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
Pathogenic progressive ataxia germline MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-10-28 criteria provided, multiple submitters, no conflicts Migraine, familial hemiplegic, 1 de novo germline maternal not provided Detail
Pathogenic 2005-06-24 no assertion criteria provided Migraine, sporadic hemiplegic, with progressive cerebellar ataxia germline Detail
Pathogenic 2015-10-08 criteria provided, multiple submitters, no conflicts episodic ataxia type 2 de novo germline Detail
Pathogenic 2023-04-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-10-30 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
Pathogenic 2023-10-30 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 2023-06-17 criteria provided, multiple submitters, no conflicts Developmental and epileptic encephalopathy, 42 germline Detail
Pathogenic 2023-03-20 criteria provided, single submitter Inborn genetic diseases germline Detail
not provided no assertion provided spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,episodic ataxia type 2 unknown Detail
not provided no assertion provided spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,episodic ataxia type 2 unknown Detail
not provided no assertion provided spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,episodic ataxia type 2 unknown 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
0.001 Progressive cerebellar ataxia Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemipl... BeFree 9915947 Detail
0.002 Cerebellar atrophy Our findings should indicate that a T666M mutation of CACNA1A may be associated ... BeFree 11814735 Detail
0.002 Nystagmus Although clinical features associated with the T666M CACNA1A mutation are highly... BeFree 18670797 Detail
0.019 familial hemiplegic migraine We herein describe a case of a 38-year-old man with familial hemiplegic migraine... BeFree 25274239 Detail
0.575 Episodic ataxia type 2 (disorder) The clinical spectrum of familial hemiplegic migraine associated with mutations ... UNIPROT 11439943 Detail
0.019 familial hemiplegic migraine Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemipl... BeFree 9915947 Detail
0.332 Hemiplegic migraine, familial type 1 The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in... BeFree 12756131 Detail
0.009 Hemiplegic migraine A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migr... BeFree 15210532 Detail
0.019 familial hemiplegic migraine Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a descript... BeFree 12756131 Detail
0.002 Cerebellar atrophy Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A... BeFree 22969264 Detail
0.009 Hemiplegic migraine Our findings should indicate that a T666M mutation of CACNA1A may be associated ... BeFree 11814735 Detail
0.142 Ataxia A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migr... BeFree 15210532 Detail
0.019 familial hemiplegic migraine Of the 18 missense mutations in the CACNA1A gene, which are associated with fami... BeFree 18400034 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND Migraine, familial hemiplegic, 1 ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND Migraine, sporadic hemiplegic, with progressive ... ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND Episodic ataxia type 2 ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND not provided ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND Familial hemiplegic migraine ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND Developmental and epileptic encephalopathy, 42 ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND Inborn genetic diseases ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) AND multiple conditions ClinVar Detail
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu... DisGeNET Detail
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with p... DisGeNET Detail
Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable c... DisGeNET Detail
Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat ... DisGeNET Detail
We herein describe a case of a 38-year-old man with familial hemiplegic migraine with a T666M mutati... DisGeNET Detail
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu... DisGeNET Detail
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with p... DisGeNET Detail
The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in 5 of 33 FHM familie... DisGeNET Detail
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. DisGeNET Detail
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families wi... DisGeNET Detail
Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a... DisGeNET Detail
Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable c... DisGeNET Detail
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. DisGeNET Detail
Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migr... 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
rs121908212 dbSNP
Genome
hg38
Position
chr19:13,303,877-13,303,877
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser