Variant (rsID / SNP)

rs144098289

rs144098289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP9. Location: chromosome 20, position 44,640,275. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMP9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 20:44640275
Cytoband: 20q13.12
HGVS: NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)
Allele change: Missense_G296S

Associated conditions / phenotypes

Metaphyseal anadysplasia 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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