rs869025321

A SNP in the SOX5 gene on chromosome 12. Its most notable genotype is A;C: Lamb-shaffer syndrome

Gene
SOX5
Location
Chr 1223,604,491 (GRCh38)
Highest magnitude
7.5Very important
Tested on
Not on consumer chips

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. A;CMost notableBadLamb-shaffer syndromeVery important · 7.5

SNPedia records rs869025321 on the minus strand: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs869025321, also known as c.1021G>T, p.Gly341Ter and G341X, represents a very rare mutation in the SOX5 gene on chromosome 12. Inherited as an autosomal dominant mutation, rs869025321(T) is reported to lead to Lamb-shaffer syndrome, a disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features.

A;C

see discussion at rs869025321

Source and license

Adapted from rs869025321 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.