rs1057519286
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of a MEPAN syndrome mutation |
(T;T) | 0 | common in clinvar |
Make rs1057519286(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 29196234 |
Gene | MECR |
is a | snp |
is | mentioned by |
dbSNP | rs1057519286 |
dbSNP (classic) | rs1057519286 |
ClinGen | rs1057519286 |
ebi | rs1057519286 |
HLI | rs1057519286 |
Exac | rs1057519286 |
Gnomad | rs1057519286 |
Varsome | rs1057519286 |
LitVar | rs1057519286 |
Map | rs1057519286 |
PheGenI | rs1057519286 |
Biobank | rs1057519286 |
1000 genomes | rs1057519286 |
hgdp | rs1057519286 |
ensembl | rs1057519286 |
geneview | rs1057519286 |
scholar | rs1057519286 |
rs1057519286 | |
pharmgkb | rs1057519286 |
gwascentral | rs1057519286 |
openSNP | rs1057519286 |
23andMe | rs1057519286 |
SNPshot | rs1057519286 |
SNPdbe | rs1057519286 |
MSV3d | rs1057519286 |
GWAS Ctlg | rs1057519286 |
Max Magnitude | 3 |
aka c.855T>G (p.Tyr285Ter)
See MECR page for extensive discussion
ClinVar | |
---|---|
Risk | rs1057519286(G;G) |
Alt | rs1057519286(G;G) |
Reference | Rs1057519286(T;T) |
Significance | Pathogenic |
Disease | Dystonia |
Variation | info |
Gene | MECR |
CLNDBN | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
Reversed | 1 |
HGVS | NC_000001.10:g.29522746A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415602.1, |