Variant (rsID / SNP)

rs121917763

rs121917763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH. Location: chromosome 11, position 2,189,126. 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: 11:2189126
Cytoband: 11p15.5
HGVS: NM_000360.4(TH):c.614T>C (p.Leu205Pro)
Allele change: Missense_L232P

Associated conditions / phenotypes

Autosomal recessive DOPA responsive dystonia

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.