TMEM230, also known as C20orf30, is a gene on chromosome 20. It encodes a putative transmembrane protein (TMEM230) localized in synaptic vesicles.
- c.422G>T, p.Arg141Leu
- c.550_552delTAGinsCCCGGG, p.*184ProGlyext*5
- c.551A>G, p.*184Trpext*5
- c.275 A>G, p.Tyr92Cys
- note these last two mutations were seen in only a single patient each, so their pathogenicity is not confirmed
At this time, none of these mutations have rs-identifiers in dbSNP.