rs121908230
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121908230(A;A) |
| Make rs121908230(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 13262789 |
| Gene | CACNA1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908230 |
| dbSNP (classic) | rs121908230 |
| ClinGen | rs121908230 |
| ebi | rs121908230 |
| HLI | rs121908230 |
| Exac | rs121908230 |
| Gnomad | rs121908230 |
| Varsome | rs121908230 |
| LitVar | rs121908230 |
| Map | rs121908230 |
| PheGenI | rs121908230 |
| Biobank | rs121908230 |
| 1000 genomes | rs121908230 |
| hgdp | rs121908230 |
| ensembl | rs121908230 |
| geneview | rs121908230 |
| scholar | rs121908230 |
| rs121908230 | |
| pharmgkb | rs121908230 |
| gwascentral | rs121908230 |
| openSNP | rs121908230 |
| 23andMe | rs121908230 |
| SNPshot | rs121908230 |
| SNPdbe | rs121908230 |
| MSV3d | rs121908230 |
| GWAS Ctlg | rs121908230 |
| Merged from | Rs121909328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908230(A;A) |
| Alt | rs121908230(A;A) |
| Reference | Rs121908230(G;G) |
| Significance | Pathogenic |
| Disease | Familial hemiplegic migraine type 1 |
| Variation | info |
| Gene | CACNA1A |
| CLNDBN | Familial hemiplegic migraine type 1 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.13373603C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
| CLNACC | RCV000009039.5, |
[PMID 15032980] A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
