Variant (rsID / SNP)

rs143024943

rs143024943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP9. Location: chromosome 20, position 44,639,214. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MMP9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:44639214
Cytoband: 20q13.12
HGVS: NM_004994.3(MMP9):c.464C>T (p.Thr155Ile)
Allele change: Missense_T155I

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.