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Variant (rsID / SNP)

rs185832993

MMP13

rs185832993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP13. Location: chromosome 11, position 102,819,837. 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
11:102819837
Cytoband
11q22.2
HGVS
NM_002427.4(MMP13):c.968C>T (p.Thr323Met)
Allele change
Missense_T323M

Associated conditions / phenotypes

Metaphyseal anadysplasia|Spondyloepimetaphyseal dysplasia, Missouri type

Public references

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