Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

C7

Gene name: complement component 7
OMIM ID: 217070
Chromosome location: 5p13.1

Mutations

Disease/PhenotypeC7 deficiency
Reference transcriptNM_000587.2
DNA Changec.1135G>C
A.A. Changep.Gly379Arg
Exon/Intronexon 9
Mutation Typesubstitution
ReferenceBehar D, Schlesinger M, Halle D, Ben-Ami H, Edoute Y, Shahar E, Kasis I, Shihab S, Elstein D, Zimran A, Mandel H.C7 complement deficiency in an Israeli Arab village.
Am J Med Genet. 2002 Jun 1;110(1):25-9.