rs398123555

A SNP in the FKTN gene on chromosome 9. Its most notable genotype is -;A: Carrier of a Fukuyama congenital muscular dystrophy mutation

Gene
FKTN
Location
Chr 9105,620,056 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;AMost notableBadCarrier of a Fukuyama congenital muscular dystrophy mutationImportant · 3.0

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

Other FKTN SNPs

All FKTN SNPs

Notes

From SNPedia

Notes

aka c.1167dupA (p.Phe390Ilefs)

-;A

Unaffected in absence of a second FKTN gene mutation

Source and license

Adapted from rs398123555 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.