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rs1057519286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 3 Carrier of a MEPAN syndrome mutation
(T;T) 0 common in clinvar


Make rs1057519286(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position29196234
GeneMECR
is asnp
is mentioned by
dbSNPrs1057519286
dbSNP (old)rs1057519286
ClinGenrs1057519286
ebirs1057519286
HLIrs1057519286
Exacrs1057519286
Gnomadrs1057519286
Varsomers1057519286
LitVarrs1057519286
Maprs1057519286
PheGenIrs1057519286
Biobankrs1057519286
1000 genomesrs1057519286
hgdprs1057519286
ensemblrs1057519286
gopubmedrs1057519286
geneviewrs1057519286
scholarrs1057519286
googlers1057519286
pharmgkbrs1057519286
gwascentralrs1057519286
openSNPrs1057519286
23andMers1057519286
23andMe allrs1057519286
SNPshotrs1057519286
SNPdbers1057519286
MSV3drs1057519286
GWAS Ctlgrs1057519286
Max Magnitude3

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,