HTT
Gene name: huntingtinOMIM ID: 613004
Chromosome location: 4p16.3
Mutations
| Disease/Phenotype | Huntington disease |
|---|---|
| Reference transcript | NM_002111.6 |
| DNA Change | c.53_55[(41_?)] (CAG EXPANSION) |
| A.A. Change | p.Gln40(41_?) |
| Exon/Intron | exon 1 |
| Mutation Type | duplication |
| Reference | Bouhouche A, Regragui W, Lamghari H, Khaldi K, Birouk N, Lytim S, Bellamine S, Kriouile Y, Bouslam N, Haddou el HA, Faris MA, Benomar A, Yahyaoui M.
Clinical and genetic data of Huntington disease in Moroccan patients. Afr Health Sci. 2015 Dec;15(4):1232-8. doi: 10.4314/ahs.v15i4.23. |