VARIANT: 714v1
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Entry
714v1 Variant
Name
C1QC mutation
Gene
C1QC
complement C1q C chain [KO:
K03988
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
120575
Network
nt06513
Complement cascade
Disease
H00102
Classic complement pathway component defects
Reference
PMID:
8630118
Authors
Slingsby JH, Norsworthy P, Pearce G, Vaishnaw AK, Issler H, Morley BJ, Walport MJ
Title
Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families.
Journal
Arthritis Rheum 39:663-70 (1996)
DOI:
10.1002/art.1780390419
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