rs386833967
A SNP in the CLN5 gene on chromosome 13. Its most notable genotype is -;AACA: Carrier of a mutation for neuronal ceroid-lipofuscinoses mutation
- Gene
- CLN5
- Location
- Chr 1377,000,848 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AACAMost notableBadCarrier of a mutation for neuronal ceroid-lipofuscinoses mutation
- AACA;AACAGoodcommon in clinvar
- ACAA;ACAAGoodcommon in clinvar
- D;INot ratedIf from Ancestry DNA, likely to be a miscall
On SNPedia: (-;AACA), (AACA;AACA), (ACAA;ACAA), (D;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
rs386833967, also known as c.1103_1106delAACA and p.Lys368Serfs, represents a very rare deletion mutation in the CLN5 gene on chromosome 13. The variant (deletion) allele is considered pathogenic for ceroid lipofuscinosis neuronal 5, a recessively inherited condition, according to ClinVar.
-;AACA
Unaffected unless carrying another pathogenic CLN5 mutation; see rs386833967
D;I
Users with raw data from Ancestry.com have an overly high rate of miscalls for this genotype. If your data is not from Ancestry.com, please contact us.
Source and license
Adapted from rs386833967 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.