Variant (rsID / SNP)

rs121917762

rs121917762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH. Location: chromosome 11, position 2,186,957. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

THPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:2186957
Cytoband: 11p15.5
HGVS: NM_000360.4(TH):c.1141C>A (p.Gln381Lys)
Allele change: Missense_Q408K

Associated conditions / phenotypes

Autosomal recessive DOPA responsive dystonia|Dystonic disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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