chr19:13470521:C>T Detail (hg19) (CACNA1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:13,470,521-13,470,521 |
hg38 | chr19:13,359,707-13,359,707 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127222.1:c.877G>A | NP_001120694.1:p.Gly293Arg |
NM_000068.3:c.877G>A | NP_000059.3:p.Gly293Arg | |
NM_001174080.1:c.877G>A | NP_001167551.1:p.Gly293Arg |
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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2005-06-28 | no assertion criteria provided | spinocerebellar ataxia type 6 |
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Detail |
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2005-06-28 | no assertion criteria provided | episodic ataxia type 2 |
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Detail |
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2020-09-13 | criteria provided, single submitter | episodic ataxia type 2,Developmental and epileptic encephalopathy, 42 |
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Detail |
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2020-09-13 | criteria provided, single submitter | episodic ataxia type 2,Developmental and epileptic encephalopathy, 42 |
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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) | Clinical spectrum of episodic ataxia type 2. | UNIPROT | 14718690 | Detail |
0.455 | Spinocerebellar Ataxia Type 6 (disorder) | NA | CLINVAR | Detail | |
0.575 | Episodic ataxia type 2 (disorder) | Clinical spectrum of episodic ataxia type 2. | UNIPROT | 14718690 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND Spinocerebellar ataxia type 6 | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND Episodic ataxia type 2 | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND multiple conditions | ClinVar | Detail |
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Clinical spectrum of episodic ataxia type 2. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Clinical spectrum of episodic ataxia type 2. | 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
- rs121908215 dbSNP
- Genome
- hg19
- Position
- chr19:13,470,521-13,470,521
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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