Variant (rsID / SNP)

rs185906233

rs185906233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKD. Location: chromosome 2, position 219,209,648. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PNKDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:219209648
Cytoband: 2q35
HGVS: NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly)
Allele change: Missense_R368W

Associated conditions / phenotypes

Paroxysmal nonkinesigenic dyskinesia

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.