rs796065306
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 8 | Dyskinesia, familial, with facial myokymia |
| (G;G) | 0 | common in clinvar |
| Make rs796065306(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 123319754 |
| Gene | ADCY5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796065306 |
| dbSNP (classic) | rs796065306 |
| ClinGen | rs796065306 |
| ebi | rs796065306 |
| HLI | rs796065306 |
| Exac | rs796065306 |
| Gnomad | rs796065306 |
| Varsome | rs796065306 |
| LitVar | rs796065306 |
| Map | rs796065306 |
| PheGenI | rs796065306 |
| Biobank | rs796065306 |
| 1000 genomes | rs796065306 |
| hgdp | rs796065306 |
| ensembl | rs796065306 |
| geneview | rs796065306 |
| scholar | rs796065306 |
| rs796065306 | |
| pharmgkb | rs796065306 |
| gwascentral | rs796065306 |
| openSNP | rs796065306 |
| 23andMe | rs796065306 |
| SNPshot | rs796065306 |
| SNPdbe | rs796065306 |
| MSV3d | rs796065306 |
| GWAS Ctlg | rs796065306 |
| Max Magnitude | 8 |
rs796065306, also known as c.2176G>A, p.Ala726Thr and A726T, represents a mutation in the ADCY5 gene on chromosome 3.
The very rare rs796065306(A) allele is reported to be an autosomally dominant mutation leading to ADCY5-related dyskinesia disorder. See the discussion at ADCY5.
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant familial dyskinesia, with facial myokymia.
See also OMIM 600293.0001
| ClinVar | |
|---|---|
| Risk | rs796065306(A;A) |
| Alt | rs796065306(A;A) |
| Reference | Rs796065306(G;G) |
| Significance | Pathogenic |
| Disease | Dyskinesia not provided |
| Variation | info |
| Gene | ADCY5 |
| CLNDBN | Dyskinesia, familial, with facial myokymia not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.123038601C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000030679.3, RCV000484892.1, |
