rs149098653

This variant is located in the ANTXR2 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication

Hyaline fibromatosis syndrome; not provided

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About ANTXR2

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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