Variant (rsID / SNP)

rs199725025

rs199725025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKRA. Location: chromosome 2, position 179,296,915. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PRKRAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:179296915
Cytoband: 2q31.2
HGVS: NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe)
Allele change: Silent

Associated conditions / phenotypes

Dystonia 16

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.