rs869025342

A SNP in the CCDC174 gene on chromosome 3. Its most notable genotype is G;G: Infantile hypotonia with psychomotor retardation

Gene
CCDC174
Location
Chr 314,671,194 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon/normalTypical · 0.0
  2. A;GBadUnaffected carrier of a mutation for infantile hypotoniaImportant · 3.0
  3. G;GMost notableBadInfantile hypotonia with psychomotor retardationVery important · 9.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs869025342, also known as c.1404A>G, p.Ter468Trp and X468W, is a rare recessive mutation in the CCDC174 gene on chromosome 3 associated with infantile hypotonia with psychomotor retardation. The (unaffected) carrier frequency in Jewish Ethiopian populations is reported to be 1%, and the mutation appears to be a founder mutation shared with the Israeli Arab Bedouin population. For more information, see this news article as well as OMIM 616735.0001.

A;G

see discussion at rs869025342

G;G

see discussion at rs869025342

Source and license

Adapted from rs869025342 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.