Huntington disease
OMIM:143100Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | HTT |
|---|---|
| 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. |