rs606231128

A SNP in the DOK7 gene on chromosome 4. Its most notable genotype is TGCC;TGCC: Congenital myasthenic syndrome, type 10

Gene
DOK7
Location
Chr 43,493,113 (GRCh38)
Highest magnitude
5.5Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;TGCCBadCarrier of a mutation for congenital myasthenic syndromeImportant · 3.0
  3. TGCC;TGCCMost notableBadCongenital myasthenic syndrome, type 10Very important · 5.5

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

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs606231128, also known as c.1124_1127dupTGCC or p.Ala378Serfs, represents a rare mutation in the DOK7 on chromosome 4. Inherited recessively, the minor allele is considered by ClinVar (and BabySeq) to be pathogenic for congenital myasthenic syndrome, type 10.

-;TGCC

Unaffected in absence of another pathogenic mutation in the DOK7 gene; see rs606231128

TGCC;TGCC

see rs606231128

Source and license

Adapted from rs606231128 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.