rs119455955

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

Gene
TPP1
Location
Chr 116,617,040 (GRCh38)
Highest magnitude
8.8Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

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

SNPedia records rs119455955 on the minus strand: (C;C), (C;T), (T;T). 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

Show notes, about 120 words

rs119455955, also known as c.622C>T, p.Arg208Ter and R208X, 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.

A;G

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

A;A

See discussion and links via main rs-page.

Source and license

Adapted from rs119455955 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.