RNASEH2A
Gene name: ribonuclease H2, subunit AOMIM ID: 606034
Chromosome location: 19p13.2
Mutations
| Disease/Phenotype | Aicardi-Gouttieres Syndrome 4 |
|---|---|
| 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. |