rs759218713
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a MEPAN syndrome mutation |
(T;T) | 0 | common in clinvar |
Make rs759218713(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 29196235 |
Gene | MECR |
is a | snp |
is | mentioned by |
dbSNP | rs759218713 |
dbSNP (classic) | rs759218713 |
ClinGen | rs759218713 |
ebi | rs759218713 |
HLI | rs759218713 |
Exac | rs759218713 |
Gnomad | rs759218713 |
Varsome | rs759218713 |
LitVar | rs759218713 |
Map | rs759218713 |
PheGenI | rs759218713 |
Biobank | rs759218713 |
1000 genomes | rs759218713 |
hgdp | rs759218713 |
ensembl | rs759218713 |
geneview | rs759218713 |
scholar | rs759218713 |
rs759218713 | |
pharmgkb | rs759218713 |
gwascentral | rs759218713 |
openSNP | rs759218713 |
23andMe | rs759218713 |
SNPshot | rs759218713 |
SNPdbe | rs759218713 |
MSV3d | rs759218713 |
GWAS Ctlg | rs759218713 |
Max Magnitude | 3 |
aka c.855T>G (p.Tyr285Ter)
See MECR page for extensive discussion
ClinVar | |
---|---|
Risk | rs759218713(C;C) |
Alt | rs759218713(C;C) |
Reference | Rs759218713(T;T) |
Significance | Pathogenic |
Disease | Dystonia |
Variation | info |
Gene | MECR |
CLNDBN | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
Reversed | 0 |
HGVS | NC_000001.10:g.29522747T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415576.1, |