rs56144125

A SNP in the TPP1 gene on chromosome 11. Its most notable genotype is G;G: CLN2 disease (predicted)

Gene
TPP1
Location
Chr 116,617,154 (GRCh38)
Highest magnitude
8.8Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;GBadCarrier of a CLN2 disease mutationImportant · 3.0
  3. G;GMost notableBadCLN2 disease (predicted)Very important · 8.8

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

Other TPP1 SNPs

All TPP1 SNPs

Notes

From SNPedia

Notes

rs56144125, also known as c.509-1G>C, is one of two recessively inherited mutations in the TPP1 (aka CLN2) gene, one of which is present in ~80% of patients with CLN2 disease (neuronal ceroid lipofuscinosis). Caregivers and families with a suspected CLN2 mutation-based patient are encouraged to reach out to patient advocacy groups and related healthcare practitioners, for example the Batten disease community or the CLN2 Connection, since CLN2-­specific disease management strategies can greatly impact patient outcomes when implemented in a timely and appropriate manner.

C;G

Unaffected in absence of a second mutation in the TPP1/CLN2 gene.

G;G

See discussion and links via main rs-page.

Source and license

Adapted from rs56144125 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.