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

COL9A1

Gene name: collagen, type IX, alpha 1
OMIM ID: 120210
Chromosome location: 6q13

Mutations

Disease/PhenotypeStickler syndrome, type IV
Reference transcriptNM_001851.4
DNA Changec.883C>T
A.A. Changep.Arg295X
Exon/Intronexon 9
Mutation Typesubstitution
ReferenceVan Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S.A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Am J Hum Genet. 2006 Sep;79(3):449-57.