Variant (rsID / SNP)

rs11564716

rs11564716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH. Location: chromosome 11, position 2,188,676. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

THBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:2188676
Cytoband: 11p15.5
HGVS: NM_000360.4(TH):c.684G>A (p.Glu228=)
Allele change: Synonymous_E255E

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.