chr19:13394080:C>T Detail (hg19) (CACNA1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:13,394,080-13,394,080 |
hg38 | chr19:13,283,266-13,283,266 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127222.1:c.3822+1G>A | |
NM_000068.3:c.3834+1G>A | ||
NM_001174080.1:c.3834+1G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-04-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-02-08 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2023-06-17 | criteria provided, single submitter | episodic ataxia type 2,Developmental and epileptic encephalopathy, 42 |
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Detail |
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2023-06-17 | criteria provided, single submitter | episodic ataxia type 2,Developmental and epileptic encephalopathy, 42 |
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Detail |
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2023-02-23 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 42 |
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Detail |
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2023-01-06 | criteria provided, single submitter | CACNA1A-related disorder |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001127222.2(CACNA1A):c.3822+1G>A AND not provided | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.3822+1G>A AND Inborn genetic diseases | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.3822+1G>A AND multiple conditions | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.3822+1G>A AND multiple conditions | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.3822+1G>A AND Developmental and epileptic encephalopathy, 42 | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.3822+1G>A AND CACNA1A-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs794727355 dbSNP
- Genome
- hg19
- Position
- chr19:13,394,080-13,394,080
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser