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Variant (rsID / SNP)

rs1800033

TH

rs1800033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH. Location: chromosome 11, position 2,185,555. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

THConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:2185555
Cytoband
11p15.5
HGVS
NM_000360.4(TH):c.1402G>A (p.Val468Met)
Allele change
Missense_V495M

Associated conditions / phenotypes

Dystonic disorder|Inborn genetic diseases|Autosomal recessive DOPA responsive dystonia

Public references

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