Variant (rsID / SNP)

rs116197349

rs116197349 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRICKLE1. Location: chromosome 12, position 42,858,375. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRICKLE1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:42858375
Cytoband: 12q12
HGVS: NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
Allele change: Synonymous_S487S

Associated conditions / phenotypes

Epilepsy, progressive myoclonic, 1B

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.