C1q deficiency
OMIM:613652Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | C1QB |
|---|---|
| Reference transcript | NM_000491.3 |
| DNA Change | c.125G>A |
| A.A. Change | p.Gly42Asp |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Petry F, Hauptmann G, Goetz J, Grosshans E, Loos M.Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects. Immunopharmacology. 1997 Dec;38(1-2):189-201. |