CTHRC1 Chromosome 8

Collagen triple helix repeat containing 1

1 variant 1 Health Risk

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What This Gene Does

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

Associated Conditions (1)

BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA

Key Variants

RS387907029

Pathogenic

BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS387907029	Health Risk	Pathogenic	BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA