chr19:13235219:A>G Detail (hg38) (CACNA1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:13,346,033-13,346,033 View the variant detail on this assembly version. |
hg38 | chr19:13,235,219-13,235,219 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127222.1:c.5123T>C | NP_001120694.1:p.Ile1708Thr |
NM_000068.3:c.5141T>C | NP_000059.3:p.Ile1714Thr | |
NM_001174080.1:c.5141T>C | NP_001167551.1:p.Ile1714Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2004-09-28 | no assertion criteria provided | Migraine, familial hemiplegic, 1 |
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Detail |
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2004-09-28 | no assertion criteria provided | spinocerebellar ataxia type 6 |
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Detail |
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2014-11-24 | no assertion criteria provided | episodic ataxia type 2 |
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Detail |
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2022-12-18 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 |
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Detail |
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2022-12-18 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 |
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Detail |
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2022-03-23 | criteria provided, single submitter | not provided |
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Detail |
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criteria provided, single submitter |
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Detail | ||
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2018-05-11 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.575 | Episodic ataxia type 2 (disorder) | NA | CLINVAR | Detail | |
0.455 | Spinocerebellar Ataxia Type 6 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND Migraine, familial hemiplegic, 1 | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND Spinocerebellar ataxia type 6 | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND Episodic ataxia type 2 | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND multiple conditions | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND multiple conditions | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND not provided | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND Neurodevelopmental delay | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) AND Inborn genetic diseases | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | 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 |
---|
- Gene
- -
- dbSNP
- rs121909326 dbSNP
- Genome
- hg38
- Position
- chr19:13,235,219-13,235,219
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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