rs587777465

A SNP in the VPS53 gene on chromosome 17. Its most notable genotype is G;G: Pontocerebellar hypoplasia type 2E

Gene
VPS53
Location
Chr 17532,843 (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. G;GMost notableBadPontocerebellar hypoplasia type 2EVery important · 9.0
  3. A;GBadCarrier of a Pontocerebellar hypoplasia type 2E mutationImportant · 3.0
  4. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs587777465 on the minus strand: (A;A), (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other VPS53 SNPs

All VPS53 SNPs

Notes

From SNPedia

Notes

VPS53 mutation, known as c.2084A>G (p.Gln695Arg), leading to Pontocerebellar hypoplasia type 2E

G;G

see Pontocerebellar hypoplasia type 2E and VPS53 gene

A;G

Unaffected carrier in absence of a second mutation; see VPS53 gene and Pontocerebellar hypoplasia type 2E.

Source and license

Adapted from rs587777465 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.