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rs1057519287

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AATC) 3 Carrier of a MEPAN syndrome mutation
(AATC;AATC) 0 common in clinvar


Make rs1057519287(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position29216612
GeneMECR
is asnp
is mentioned by
dbSNPrs1057519287
dbSNP (old)rs1057519287
ClinGenrs1057519287
ebirs1057519287
HLIrs1057519287
Exacrs1057519287
Gnomadrs1057519287
Varsomers1057519287
Maprs1057519287
PheGenIrs1057519287
Biobankrs1057519287
1000 genomesrs1057519287
hgdprs1057519287
ensemblrs1057519287
gopubmedrs1057519287
geneviewrs1057519287
scholarrs1057519287
googlers1057519287
pharmgkbrs1057519287
gwascentralrs1057519287
openSNPrs1057519287
23andMers1057519287
23andMe allrs1057519287
SNPshotrs1057519287
SNPdbers1057519287
MSV3drs1057519287
GWAS Ctlgrs1057519287
Max Magnitude3

aka c.247_250delAATC (p.Asn83Hisfs)

See MECR page for extensive discussion


ClinVar
Risk rs1057519287(-;-)
Alt rs1057519287(-;-)
Reference Rs1057519287(AATC;AATC)
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.29543124_29543127delGATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000415548.1,