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Variant (rsID / SNP)

rs17099014

MMP20

rs17099014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP20. Location: chromosome 11, position 102,482,594. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MMP20Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:102482594
Cytoband
11q22.2
HGVS
NM_004771.4(MMP20):c.415G>A (p.Asp139Asn)
Allele change
Missense_D139N

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.