rs768299617

This variant is located in the ITIH1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ITIH1

This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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