rs121964997

A SNP in the HMGCL gene on chromosome 1. Its most notable genotype is C;T: Carrier of an HMG-CoA lyase deficiency mutation

Gene
HMGCL
Location
Chr 123,820,532 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of an HMG-CoA lyase deficiency mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs121964997 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.122G>A (p.Arg41Gln or R41Q)

C;T

Unaffected in absence of a second HMGCL gene mutation

Source and license

Adapted from rs121964997 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.