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rs762913101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a MEPAN syndrome mutation
Make rs762913101(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position29202004
GeneMECR
is asnp
is mentioned by
dbSNPrs762913101
dbSNP (classic)rs762913101
ClinGenrs762913101
ebirs762913101
HLIrs762913101
Exacrs762913101
Gnomadrs762913101
Varsomers762913101
LitVarrs762913101
Maprs762913101
PheGenIrs762913101
Biobankrs762913101
1000 genomesrs762913101
hgdprs762913101
ensemblrs762913101
geneviewrs762913101
scholarrs762913101
googlers762913101
pharmgkbrs762913101
gwascentralrs762913101
openSNPrs762913101
23andMers762913101
23andMe allrs762913101
SNPshotrs762913101
SNPdbers762913101
MSV3drs762913101
GWAS Ctlgrs762913101
Max Magnitude3

aka c.695G>A (p.Gly232Glu)

See MECR page for extensive discussion

ClinVar
Risk rs762913101(T;T)
Alt rs762913101(T;T)
Reference Rs762913101(C;C)
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.29528516C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415570.1,