COL23A1 Chromosome 5

Collagen type XXIII alpha 1 chain

1 variant 1 Health Risk

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What This Gene Does

COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]

Gene Info

Gene Group

Membrane associated collagens with interrupted triple helices

Locus Type

gene with protein product

Location

5q35.3

Ensembl

ENSG00000050767

Associated Conditions (1)

Vascular endothelial growth factor (VEGF) inhibitor response

Key Variants

RS17081072

association

Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS17081072	Health Risk	association	Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response