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Variant (rsID / SNP)

rs139747674

PRICKLE2

rs139747674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRICKLE2. Location: chromosome 3, position 64,142,981. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRICKLE2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:64142981
Cytoband
3p14.1
HGVS
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
Allele change
Missense_V153I

Associated conditions / phenotypes

Myoclonic epilepsy, progressive, X-linked|Epilepsy, progressive myoclonic 5|Progressive myoclonic epilepsy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.