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rs759218713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a MEPAN syndrome mutation
(T;T) 0 common in clinvar


Make rs759218713(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position29196235
GeneMECR
is asnp
is mentioned by
dbSNPrs759218713
dbSNP (classic)rs759218713
ClinGenrs759218713
ebirs759218713
HLIrs759218713
Exacrs759218713
Gnomadrs759218713
Varsomers759218713
LitVarrs759218713
Maprs759218713
PheGenIrs759218713
Biobankrs759218713
1000 genomesrs759218713
hgdprs759218713
ensemblrs759218713
geneviewrs759218713
scholarrs759218713
googlers759218713
pharmgkbrs759218713
gwascentralrs759218713
openSNPrs759218713
23andMers759218713
23andMe allrs759218713
SNPshotrs759218713
SNPdbers759218713
MSV3drs759218713
GWAS Ctlgrs759218713
Max Magnitude3

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,