Variant (rsID / SNP)

rs188632189

rs188632189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRICKLE2. Location: chromosome 3, position 64,142,911. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PRICKLE2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:64142911
Cytoband: 3p14.1
HGVS: NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys)
Allele change: Missense_Y176C

Associated conditions / phenotypes

Epilepsy, progressive myoclonic 5

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.