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Variant (rsID / SNP)

rs142064825

MMP13

rs142064825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP13. Location: chromosome 11, position 102,815,039. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMP13Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:102815039
Cytoband
11q22.2
HGVS
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)
Allele change
Missense_R458C

Associated conditions / phenotypes

Spondyloepimetaphyseal dysplasia, Missouri type|Metaphyseal anadysplasia|Metaphyseal chondrodysplasia, Spahr type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.