Variant (rsID / SNP)

rs121912954

rs121912954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP2. Location: chromosome 16, position 55,519,589. Clinical significance in the table: Pathogenic.

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Reference-table entries

MMP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:55519589
Cytoband: 16q12.2
HGVS: NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter)
Allele change: Nonsense_Y168X

Associated conditions / phenotypes

Multicentric osteolysis, nodulosis, and arthropathy

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.