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Variant (rsID / SNP)

rs45471299

TH

rs45471299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH. Location: chromosome 11, position 2,185,569. 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
11:2185569
Cytoband
11p15.5
HGVS
NM_000360.4(TH):c.1388C>T (p.Thr463Met)
Allele change
Missense_T490M

Associated conditions / phenotypes

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

Public references

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