Gene entry
MMP13
matrix metallopeptidase 13
- Chromosome
- 11
- Cytoband
- 11q22.2
- Variants (rsID)
- 12
MMP13 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q22.2). Its official name is “matrix metallopeptidase 13”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs1042840Benignsingle nucleotide variantMetaphyseal anadysplasia|Spondyloepimetaphyseal dysplasia, Missouri type
- rs142064825Conflicting interpretationssingle nucleotide variantSpondyloepimetaphyseal dysplasia, Missouri type|Metaphyseal anadysplasia|Metaphyseal chondrodysplasia, Spahr type
- rs142601143Conflicting interpretationssingle nucleotide variantMetaphyseal anadysplasia|Spondyloepimetaphyseal dysplasia, Missouri type
- rs185832993Conflicting interpretationssingle nucleotide variantMetaphyseal anadysplasia|Spondyloepimetaphyseal dysplasia, Missouri type
- rs140059558Pathogenicsingle nucleotide variantMetaphyseal chondrodysplasia, Spahr type
- rs797044754PathogenicDuplication
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.