rs386833969
A SNP in the CLN5 gene on chromosome 13. Its most notable genotype is -;-: neuronal ceroid lipofuscinosis, CLN-5 related allele
- Gene
- CLN5
- Location
- Chr 1377,000,920 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadneuronal ceroid lipofuscinosis, CLN-5 related allele
- -;ATBadcarrier for neuronal ceroid lipofuscinosis CLN-5 related allele
- AT;ATGoodcommon in clinvar
On SNPedia: (-;-), (-;AT), (AT;AT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
aka c.1175_1176delAT (p.Tyr392Terfs)
Source and license
Adapted from rs386833969 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.