Home > Gene Browser > COL23A1

COL23A1

Synonyms
-
External resources
Summary
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]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
6,219
Likely benign
5,813
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COL23A1 gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes