COL9A1
Gene name: collagen, type IX, alpha 1OMIM ID: 120210
Chromosome location: 6q13
Mutations
| Disease/Phenotype | Stickler syndrome, type IV |
|---|---|
| Reference transcript | NM_001851.4 |
| DNA Change | c.883C>T |
| A.A. Change | p.Arg295X |
| Exon/Intron | exon 9 |
| Mutation Type | substitution |
| Reference | Van 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. |