chr19:13261495:A>C Detail (hg38) (CACNA1A, LOC126862864)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:13,372,309-13,372,309 View the variant detail on this assembly version. |
hg38 | chr19:13,261,495-13,261,495 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127222.1:c.4205T>G | NP_001120694.1:p.Phe1402Cys |
NM_000068.3:c.4217T>G | NP_000059.3:p.Phe1406Cys | |
NM_001174080.1:c.4217T>G | NP_001167551.1:p.Phe1406Cys |
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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2001-11-27 | no assertion criteria provided | episodic ataxia type 2 |
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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 | |
0.575 | Episodic ataxia type 2 (disorder) | EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels ... | UNIPROT | 11723274 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) AND Episodic ataxia type 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whol... | 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
- rs121908227 dbSNP
- Genome
- hg38
- Position
- chr19:13,261,495-13,261,495
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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