rs777240987
This variant is located in the COL9A3 gene.
▶ClinVar annotation
Conflicting Classifications
2 submitters1 publicationAbout COL9A3
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
View all COL9A3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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