rs1057519286

Orientation

minus

Stabilized

minus

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

Make rs1057519286(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

29196234

Gene

MECR

is a	snp
is	mentioned by
dbSNP	rs1057519286
dbSNP (classic)	rs1057519286
ClinGen	rs1057519286
ebi	rs1057519286
HLI	rs1057519286
Exac	rs1057519286
Gnomad	rs1057519286
Varsome	rs1057519286
LitVar	rs1057519286
Map	rs1057519286
PheGenI	rs1057519286
Biobank	rs1057519286
1000 genomes	rs1057519286
hgdp	rs1057519286
ensembl	rs1057519286
geneview	rs1057519286
scholar	rs1057519286
google	rs1057519286
pharmgkb	rs1057519286
gwascentral	rs1057519286
openSNP	rs1057519286
23andMe	rs1057519286
SNPshot	rs1057519286
SNPdbe	rs1057519286
MSV3d	rs1057519286
GWAS Ctlg	rs1057519286

Max Magnitude

3

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,