rs113994140

A SNP in the PRICKLE1 gene on chromosome 12. Its most notable genotype is C;T: Carrier of a progressive myoclonic epilepsy-1B mutation

Gene
PRICKLE1
Location
Chr 1242,469,523 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of a progressive myoclonic epilepsy-1B mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs113994140 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other PRICKLE1 SNPs

All PRICKLE1 SNPs

Notes

From SNPedia

Notes

aka c.311G>A (p.Arg104Gln or R104Q)

C;T

Unaffected in absence of a second PRICKLE1 gene mutation

Source and license

Adapted from rs113994140 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.