rs762913101

Orientation

plus

Stabilized

plus

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

Make rs762913101(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

29202004

Gene

MECR

is a	snp
is	mentioned by
dbSNP	rs762913101
dbSNP (classic)	rs762913101
ClinGen	rs762913101
ebi	rs762913101
HLI	rs762913101
Exac	rs762913101
Gnomad	rs762913101
Varsome	rs762913101
LitVar	rs762913101
Map	rs762913101
PheGenI	rs762913101
Biobank	rs762913101
1000 genomes	rs762913101
hgdp	rs762913101
ensembl	rs762913101
geneview	rs762913101
scholar	rs762913101
google	rs762913101
pharmgkb	rs762913101
gwascentral	rs762913101
openSNP	rs762913101
23andMe	rs762913101
SNPshot	rs762913101
SNPdbe	rs762913101
MSV3d	rs762913101
GWAS Ctlg	rs762913101

Max Magnitude

3

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,