GENETIC ENCYCLOPEDIA
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gene: COL2A1

id1280
symbolCOL2A1
organismHomo sapiens
full namecollagen type II alpha 1 chain
summaryThis gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
variant-disease

NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) AND not provided

NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) AND Osteoarthritis with mild chondrodysplasia

NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) AND Stickler syndrome type 1

NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) AND Stickler syndrome type 1

NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) AND Spondylometaphyseal dysplasia

... 730 more


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