Variant (rsID / SNP)

rs202190131

rs202190131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKD. Location: chromosome 2, position 219,204,600. 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: 2:219204600
Cytoband: 2q35
HGVS: NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
Allele change: Missense_T111A

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.