rs1057519287

Orientation

minus

Stabilized

minus

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

Make rs1057519287(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

29216612

Gene

MECR

is a	snp
is	mentioned by
dbSNP	rs1057519287
dbSNP (classic)	rs1057519287
ClinGen	rs1057519287
ebi	rs1057519287
HLI	rs1057519287
Exac	rs1057519287
Gnomad	rs1057519287
Varsome	rs1057519287
LitVar	rs1057519287
Map	rs1057519287
PheGenI	rs1057519287
Biobank	rs1057519287
1000 genomes	rs1057519287
hgdp	rs1057519287
ensembl	rs1057519287
geneview	rs1057519287
scholar	rs1057519287
google	rs1057519287
pharmgkb	rs1057519287
gwascentral	rs1057519287
openSNP	rs1057519287
23andMe	rs1057519287
SNPshot	rs1057519287
SNPdbe	rs1057519287
MSV3d	rs1057519287
GWAS Ctlg	rs1057519287

Max Magnitude

3

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,