Variant (rsID / SNP)

rs113994140

rs113994140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRICKLE1. Location: chromosome 12, position 42,863,325. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PRICKLE1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:42863325
Cytoband: 12q12
HGVS: NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
Allele change: Missense_R104Q

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.