Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTTCACCAAGTTAGATTA;GTTCACCAAGTTAGATTA) 0 common in clinvar
Make rs80358235(-;-)
Make rs80358235(-;GTTCACCAAGTTAGATTA)
ReferenceGRCh38 38.1/141
Chromosome9
Position129813988
GeneTOR1A
is asnp
is mentioned by
dbSNPrs80358235
ebirs80358235
HLIrs80358235
Exacrs80358235
Varsomers80358235
Maprs80358235
PheGenIrs80358235
hapmaprs80358235
1000 genomesrs80358235
hgdprs80358235
ensemblrs80358235
gopubmedrs80358235
geneviewrs80358235
scholarrs80358235
googlers80358235
pharmgkbrs80358235
gwascentralrs80358235
openSNPrs80358235
23andMers80358235
23andMe allrs80358235
SNP Nexus

SNPshotrs80358235
SNPdbers80358235
MSV3drs80358235
GWAS Ctlgrs80358235
Max Magnitude0
OMIM605204
Desc
Variant0002
Relatedalso
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.