Variant (rsID / SNP)

rs200042352

rs200042352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKD. Location: chromosome 2, position 219,209,672. 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: 2:219209672
Cytoband: 2q35
HGVS: NM_015488.5(PNKD):c.1126C>T (p.Arg376Cys)
Allele change: Missense_R376C

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.