rs753930720

This variant is located in the COL11A1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters4 publications

Hearing impairment; not provided

About COL11A1

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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