Variant (rsID / SNP)

rs147259983

rs147259983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKD. Location: chromosome 2, position 219,204,534. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNKDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:219204534
Cytoband: 2q35
HGVS: NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
Allele change: Missense_G89R

Associated conditions / phenotypes

Paroxysmal nonkinesigenic dyskinesia 1|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.