CTHRC1

Chr 8

collagen triple helix repeat containing 1

NCBI Gene: 115908ENSG00000164932UniProt: Q96CG8OMIM: 610635

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Barrett esophagus/esophageal adenocarcinomaMIM #614266
1
Active trials
111
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.40
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.40LOEUF
pLI 0.000
Z-score 0.66
OE 0.78 (0.46–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.84 (0.72–0.99)
107 obs / 127.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.46–1.40)
0≤0.351.4
Missense OE?0.84 (0.72–0.99)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 8 / 10.3Missense obs/exp: 107 / 127.1Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CTHRC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients