Variant (rsID / SNP)

rs17720698

rs17720698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRICKLE2. Location: chromosome 3, position 64,142,859. Clinical significance in the table: Benign.

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Reference-table entries

PRICKLE2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:64142859
Cytoband: 3p14.1
HGVS: NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
Allele change: Synonymous_P193P

Associated conditions / phenotypes

Progressive myoclonic epilepsy|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.