chr19:13235637:A>G Detail (hg38) (CACNA1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:13,346,451-13,346,451 View the variant detail on this assembly version. |
hg38 | chr19:13,235,637-13,235,637 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127222.1:c.5044T>C | NP_001120694.1:p.Trp1682Arg |
NM_000068.3:c.5062T>C | NP_000059.3:p.Trp1688Arg | |
NM_001174080.1:c.5062T>C | NP_001167551.1:p.Trp1688Arg |
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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no assertion provided | Migraine, familial hemiplegic, 1 |
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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 |
0.013 | cerebellar ataxia | Here, we explored the effects of G protein-dependent modulation on mutations W16... | BeFree | 22549042 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg) AND Migraine, familial hemiplegic, 1 | ClinVar | Detail |
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu... | DisGeNET | Detail |
Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which... | 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
- rs121908221 dbSNP
- Genome
- hg38
- Position
- chr19:13,235,637-13,235,637
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser