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 |
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Variant entry | 3 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
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hemiplegic migraine |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
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coma |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
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progressive ataxia |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-10-28 | criteria provided, multiple submitters, no conflicts | Migraine, familial hemiplegic, 1 |
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Detail |
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2005-06-24 | no assertion criteria provided | Migraine, sporadic hemiplegic, with progressive cerebellar ataxia |
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Detail |
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2015-10-08 | criteria provided, multiple submitters, no conflicts | episodic ataxia type 2 |
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Detail |
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2023-04-21 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-10-30 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 |
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Detail |
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2023-10-30 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 |
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Detail |
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no assertion provided | familial hemiplegic migraine |
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Detail | |
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2023-06-17 | criteria provided, multiple submitters, no conflicts | Developmental and epileptic encephalopathy, 42 |
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Detail |
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2023-03-20 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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no assertion provided | spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,episodic ataxia type 2 |
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Detail | |
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no assertion provided | spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,episodic ataxia type 2 |
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Detail | |
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no assertion provided | spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,episodic ataxia type 2 |
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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
Descrption | Source | Links |
---|---|---|
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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
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- 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