Aicardi-Gouttieres Syndrome 4
OMIM:610333Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | RNASEH2A |
|---|---|
| Reference transcript | NM_006397.2 |
| DNA Change | c.556C>T |
| A.A. Change | p.Arg186Trp |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von St?lpnagel C, Ikonomidou C, et al.Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti?res syndrome. Arthritis Rheum. 2010 May;62(5):1469-77. |