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MATN1

Synonyms
CMP, CRTM
External resources
Summary
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias.

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
1,822
Likely benign
1,021
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MATN1 gene.

Phenotype class
Patients in 3billion (%)

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