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Variant (rsID / SNP)

rs149589493

MMP20

rs149589493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP20. Location: chromosome 11, position 102,464,281. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMP20Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:102464281
Cytoband
11q22.2
HGVS
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu)
Allele change
Missense_P379L

Associated conditions / phenotypes

Amelogenesis imperfecta hypomaturation type 2A2

Public references

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