rs281865192

A SNP in the CEP290 gene on chromosome 12. Its most notable genotype is C;C: Leber Congenital Amaurosis (blindness)

Gene
CEP290
Location
Chr 1288,101,183 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. C;TBadcarrier of one Leber Congenital Amaurosis alleleImportant · 3.0
  3. C;CMost notableBadLeber Congenital Amaurosis (blindness)Very important · 6.0

SNPedia records rs281865192 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other CEP290 SNPs

All CEP290 SNPs

Notes

From SNPedia

Notes

rs281865192, also known as c.2991+1655A>G and p.Cys998X, is a mutation in the CEP290 gene on chromosome 12. When inherited in a recessive manner, the rs281865192(G) allele is reported to lead to Leber Congenital Amaurosis, the most common form of congenital blindness. This mutation is considered the most common LCA mutation in the CEP290 gene. A company, ProQR Therapeutics, is developing a therapeutic to specifically treat LCA patients carrying Cys998X mutations. Also: Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

C;T

see discussion at rs281865192

C;C

see discussion at rs281865192

Source and license

Adapted from rs281865192 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.