rs759218713

Orientation

plus

Stabilized

plus

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

Make rs759218713(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

29196235

Gene

MECR

is a	snp
is	mentioned by
dbSNP	rs759218713
dbSNP (classic)	rs759218713
ClinGen	rs759218713
ebi	rs759218713
HLI	rs759218713
Exac	rs759218713
Gnomad	rs759218713
Varsome	rs759218713
LitVar	rs759218713
Map	rs759218713
PheGenI	rs759218713
Biobank	rs759218713
1000 genomes	rs759218713
hgdp	rs759218713
ensembl	rs759218713
geneview	rs759218713
scholar	rs759218713
google	rs759218713
pharmgkb	rs759218713
gwascentral	rs759218713
openSNP	rs759218713
23andMe	rs759218713
SNPshot	rs759218713
SNPdbe	rs759218713
MSV3d	rs759218713
GWAS Ctlg	rs759218713

Max Magnitude

3

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,