rs80358235

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GTTCACCAAGTTAGATTA;GTTCACCAAGTTAGATTA)	0	common in clinvar

Make rs80358235(-;-)

Make rs80358235(-;GTTCACCAAGTTAGATTA)

Reference

GRCh38 38.1/141

Chromosome

9

Position

129813988

Gene

TOR1A

is a	snp
is	mentioned by
dbSNP	rs80358235
dbSNP (classic)	rs80358235
ClinGen	rs80358235
ebi	rs80358235
HLI	rs80358235
Exac	rs80358235
Gnomad	rs80358235
Varsome	rs80358235
LitVar	rs80358235
Map	rs80358235
PheGenI	rs80358235
Biobank	rs80358235
1000 genomes	rs80358235
hgdp	rs80358235
ensembl	rs80358235
geneview	rs80358235
scholar	rs80358235
google	rs80358235
pharmgkb	rs80358235
gwascentral	rs80358235
openSNP	rs80358235
23andMe	rs80358235
SNPshot	rs80358235
SNPdbe	rs80358235
MSV3d	rs80358235
GWAS Ctlg	rs80358235

Max Magnitude

0

OMIM	605204
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80358235(-;-)
Alt	rs80358235(-;-)
Reference	Rs80358235(GTTCACCAAGTTAGATTA;GTTCACCAAGTTAGATTA)
Significance	Pathogenic
Disease	Dystonia Dystonia 1
Variation	info
Gene	TOR1A
CLNDBN	Dystonia, early-onset atypical, with myoclonic features Dystonia 1
Reversed	1
HGVS	NC_000009.11:g.132576267_132576284del18
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005489.4, RCV000020124.1,

[PMID 11523564] Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

[PMID 12391338] Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes?

[PMID 12391355] Clinical findings of a myoclonus-dystonia family with two distinct mutations.

[PMID 12402271] Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.