KEGG   VARIANT: 727v1
Entry
727v1                      Variant                                 
Name
C5 mutation
Gene
C5  complement C5 [KO:K03994]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120900
Network
nt06513  Complement cascade
Disease
H00103  Late complement pathway defects
Reference
PMID:7730648
  Authors
Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA
  Title
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
  Journal
J Immunol 154:5464-71 (1995)
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