rs267607036

A SNP in the SEPSECS gene on chromosome 4. Its most notable genotype is C;C: Pontocerebellar hypoplasia type 2D

Gene
SEPSECS
Location
Chr 425,144,799 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. C;TBadCarrier of a Pontocerebellar hypoplasia type 2D mutationImportant · 3.0
  3. C;CMost notableBadPontocerebellar hypoplasia type 2DVery important · 9.0

SNPedia records rs267607036 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 SEPSECS SNPs

All SEPSECS SNPs

Notes

From SNPedia

Notes

SEPSECS gene mutation, known as c.1001A>G, p.Tyr334Cys or Y334C; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

C;T

Unaffected carrier in absence of a second mutation; see SEPSECS gene and Pontocerebellar hypoplasia type 2D.

C;C

see Pontocerebellar hypoplasia type 2D and SEPSECS gene

Source and license

Adapted from rs267607036 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.