rs1060505041

A SNP in the NACC1 gene on chromosome 19. Its most notable genotype is C;T: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

Gene
NACC1
Location
Chr 1913,136,099 (GRCh38)
Highest magnitude
8.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadNeurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelinationVery important · 8.0

On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.892C>T (p.Arg298Trp) A very rare mutation; seven children worldwide are known to carry this mutation and the associated neurodevelopmental disorder involving epilepsy, cataracts, feeding difficulties, and delayed brain myelination. Several 2017 articles in the popular press can be found about the search for this mutation, based on the story of parents Jamie Mills & Liz Aronin and their son, Quinn Mills.

C;T

See discussion and links via main rs-page.

Source and license

Adapted from rs1060505041 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.