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Variant (rsID / SNP)

rs199535970

TOR1A

rs199535970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOR1A. Location: chromosome 9, position 132,584,943. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TOR1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:132584943
Cytoband
9q34.11
HGVS
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)
Allele change
Missense_E121K

Associated conditions / phenotypes

Early-onset generalized limb-onset dystonia|Dystonic disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.